346 panels

Panel Evaluated genes Reviewers Actions
346 panels

Additional findings health related

Version 0.110

Panel Types: Additional Findings,

14 of 14
100%
2 reviewers Download

Additional findings health related - adults

Version 0.22

Panel Types: Additional Findings, Super Panel,

0 of 13
0%
0 reviewers Download

Additional findings health related - adult specific

Version 0.19

Panel Types: Additional Findings, Component Of Super Panel,

0 of 6
0%
0 reviewers Download

Additional findings health related - children

Version 0.17

Panel Types: Additional Findings, Component Of Super Panel,

0 of 7
0%
0 reviewers Download

Additional findings health related - CNV analysis adults

Version 0.17

Panel Types: Additional Findings, Super Panel,

0 of 10
0%
0 reviewers Download

Additional findings health related - CNV analysis adult specific

Version 0.19

Panel Types: Additional Findings, Component Of Super Panel,

0 of 6
0%
0 reviewers Download

Additional findings health related - CNV analysis children

Version 0.12

Panel Types: Additional Findings, Component Of Super Panel,

0 of 4
0%
0 reviewers Download

Additional findings reproductive carrier status

Version 0.5

Panel Types: Additional Findings,

0 of 1
0%
0 reviewers Download

Adult onset movement disorder


Relevant disorders: Adult onset dystonia, chorea or related movement disorder, R56
Version 1.71

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.38 (8 Apr 2021)
217 of 217
100%

STRs: 11
Regions: 1
9 reviewers Download

Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Carcinoma of unknown primary, Other, Adult solid tumours pertinent cancer susceptibility
Version 2.7

Panel Types: GMS signed-off, Cancer Germline 100K, GMS Cancer Germline Virtual,

Latest signed off version: v2.2 (18 Feb 2020)
99 of 105
94%
6 reviewers Download

Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes

Relevant disorders: Young adult onset cancer, Exceptionally young adult onset cancer, Multiple Tumours, Rare tumour predisposition syndromes
Version 1.22

Panel Types: Rare Disease 100K,

58 of 59
98%

Regions: 1
5 reviewers Download

Albinism or congenital nystagmus


Relevant disorders: R39, Albinism or congenital nystagmus
Version 1.19

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.18 (4 Aug 2021)
23 of 44
52%
6 reviewers Download

Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Amelogenesis Imperfecta, R340
Version 2.9

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (13 Feb 2020)
40 of 40
100%
7 reviewers Download

Amyloidosis


Relevant disorders: R204
Version 1.14

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease,

Latest signed off version: v1.13 (18 Aug 2021)
11 of 11
100%
5 reviewers Download

Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Amyotrophic lateral sclerosis or motor neuron disease
Version 1.29

Panel Types: Rare Disease 100K,

34 of 34
100%

STRs: 4
9 reviewers Download

Aniridia


Relevant disorders: R38
Version 2.14

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.5 (15 Oct 2020)
6 of 7
86%

Regions: 1
4 reviewers Download

Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders: Anophthalmia or microphthamia, Anophthalmia/microphthamia, Anophthalmia/microphthalmia
Version 1.38

Panel Types: Rare Disease 100K,

63 of 63
100%
13 reviewers Download

API_SignedOffVersion_L4

Level 3: API_SignedOffVersion_L3
Level 2: API_SignedOffVersion_L2
Version 0.0

Panel Types: GMS Rare Disease,

0
0%
Download

Arrhythmogenic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Arrhythmogenic Right Ventricular Cardiomyopathy, Arrythmogenic cardiomyopathy, R133
Version 2.13

Panel Types: GMS Rare Disease Virtual, GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.9 (15 Oct 2020)
20 of 20
100%
13 reviewers Download

Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Arthrogrythsis, R83
Version 3.76

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual,

Latest signed off version: v3.2 (13 Feb 2020)
267 of 284
94%
18 reviewers Download

Ataxia and cerebellar anomalies - narrow panel

Version 2.54

Panel Types: GMS signed-off, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.23 (8 Oct 2020)
87 of 265
33%

STRs: 14
Regions: 3
8 reviewers Download

Atypical haemolytic uraemic syndrome

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders

Relevant disorders: R201
Version 2.8

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (13 Feb 2020)
15 of 15
100%
7 reviewers Download

Auditory Neuropathy Spectrum Disorder

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders

Relevant disorders: Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy Spectrum Disorde
Version 1.8

Panel Types: Rare Disease 100K,

5 of 5
100%
4 reviewers Download

Autism

Version 0.27

Panel Types: Research,

735 of 735
100%
10 reviewers Download

Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders

Relevant disorders:
Version 1.10

Panel Types: Rare Disease 100K,

15 of 16
94%

Regions: 1
4 reviewers Download

Autosomal recessive primary hypertrophic osteoarthropathy


Relevant disorders: R167
Version 1.9

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.5 (11 Nov 2020)
3 of 3
100%
1 reviewer Download

Bardet Biedl syndrome


Relevant disorders: R107
Version 1.9

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (18 Feb 2020)
24 of 24
100%
13 reviewers Download

Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders

Relevant disorders: Atypical Beckwith-Wiedemann syndrome, Classical Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, Weaver syndrome
Version 1.103

Panel Types: Rare Disease 100K,

29 of 30
97%

Regions: 1
8 reviewers Download

Bladder cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Bladder
Version 1.1

Panel Types: Cancer Germline 100K,

0 of 4
0%
0 reviewers Download

Bleeding and platelet disorders


Relevant disorders: R90
Version 1.25

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.24 (18 Aug 2021)
114 of 114
100%
10 reviewers Download

Brain cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Adult Glioma
Version 1.1

Panel Types: GMS signed-off, GMS Cancer Germline Virtual, Cancer Germline 100K,

Latest signed off version: v1.0 (26 Jul 2021)
7 of 7
100%
2 reviewers Download

Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.59

Panel Types: Rare Disease 100K,

31 of 32
97%

STRs: 5
Regions: 1
7 reviewers Download

Breast cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Breast
Version 1.2

Panel Types: GMS signed-off, GMS Cancer Germline Virtual, Cancer Germline 100K,

Latest signed off version: v1.1 (26 Jul 2021)
5 of 5
100%
3 reviewers Download

Brugada syndrome

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: R128
Version 2.33

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.4 (20 Aug 2020)
23 of 23
100%
11 reviewers Download

CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders

Relevant disorders: Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)
Version 1.160

Panel Types: Rare Disease 100K,

98 of 99
99%

Regions: 1
16 reviewers Download

Cardiac arrhythmias


Relevant disorders: Cardiac arrythmias
Version 6.114

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Latest signed off version: v6.27 (4 Mar 2020)
95 of 97
98%
20 reviewers Download

Cardiac arrhythmias - additional genes

Version 1.12

Panel Types: GMS signed-off, Component Of Super Panel,

Latest signed off version: v1.9 (28 Mar 2021)
2 of 2
100%
3 reviewers Download

Cardiomyopathies - including childhood onset


Relevant disorders: Paediatric or syndromic cardiomyopathy, R135
Version 1.19

Panel Types: GMS signed-off, GMS Rare Disease, GMS Rare Disease Virtual,

Latest signed off version: v1.4 (19 Feb 2020)
203 of 203
100%

Regions: 1
18 reviewers Download

Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Bilateral congenital or childhood onset cataracts, R31
Version 2.67

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (19 Feb 2020)
193 of 193
100%
14 reviewers Download

Catecholaminergic polymorphic VT

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Catecholaminergic Polymorphic Ventricular Tachycardia, R129
Version 2.22

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.5 (20 Aug 2020)
10 of 10
100%
8 reviewers Download

Cerebellar hypoplasia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Cerebellar Hypoplasia, Pontine tegmental cap dysplasia
Version 1.43

Panel Types: Rare Disease 100K,

66 of 67
99%
11 reviewers Download

Cerebral folate deficiency

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

4 of 4
100%
3 reviewers Download

Cerebral malformations


Relevant disorders: Cerebral malformation, R87
Version 5.69

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Latest signed off version: v5.17 (4 Mar 2020)
141 of 146
97%

Regions: 1
16 reviewers Download

Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Cerebrovascular disorders, Vein of Galen malformation, Cerebral arteriovenous malformations, Moyamoya disease, R336
Version 2.8

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual,

Latest signed off version: v2.2 (2 Mar 2020)
104 of 104
100%
7 reviewers Download

CHARGE syndrome

Version 0.11

1 of 1
100%
10 reviewers Download

Childhood onset dystonia or chorea or related movement disorder


Relevant disorders: Childhood onset dystonia, chorea or related movement disorder, R57
Version 1.84

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.58 (6 Oct 2020)
963 of 963
100%

STRs: 3
11 reviewers Download

Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Childhood, Childhood solid tumours pertinent cancer susceptibility
Version 1.14

Panel Types: Cancer Germline 100K,

76 of 85
89%
6 reviewers Download

Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders

Relevant disorders:
Version 1.15

Panel Types: Rare Disease 100K,

14 of 14
100%
5 reviewers Download

Cholestasis


Relevant disorders: R171
Version 1.81

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.21 (20 Aug 2020)
73 of 73
100%
15 reviewers Download

Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

6 of 6
100%
5 reviewers Download

Classical tuberous sclerosis

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

2 of 2
100%
2 reviewers Download

Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Familial non-syndromic cleft lip and or familial cleft palate, Familial non-syndromic clefting, Syndromic cleft lip and or cleft palate, Syndromic clefting
Version 2.24

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel,

Latest signed off version: v2.2 (4 Mar 2020)
251 of 267
94%

Regions: 5
17 reviewers Download

ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Version 0.10

Panel Types: ClinGen Curated genes,

53 of 53
100%
1 reviewer Download

ClinGen Gene Validity Curations

Version 0.64

Panel Types: ClinGen Curated genes,

47 of 47
100%
3 reviewers Download

Colorectal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Colorectal
Version 1.0

Panel Types: Cancer Germline 100K,

13 of 13
100%
3 reviewers Download

Combined factor V and VIII deficiency


Relevant disorders: R124
Version 1.6

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (3 Mar 2020)
2 of 2
100%
5 reviewers Download

Common craniosynostosis syndromes


Relevant disorders: R99
Version 1.15

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.14 (12 Aug 2021)
7 of 7
100%
1 reviewer Download

Confirmed Fanconi anaemia or Bloom syndrome


Relevant disorders: R229, R258
Version 1.11

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.7 (15 Oct 2020)
22 of 22
100%
6 reviewers Download

Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders

Relevant disorders: R150
Version 2.6

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (19 Feb 2020)
21 of 21
100%
8 reviewers Download

Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders: Congential disorders of glycosylation
Version 2.66

Panel Types: GMS Rare Disease, GMS signed-off, Rare Disease 100K, Component Of Super Panel,

Latest signed off version: v2.4 (4 Mar 2020)
111 of 111
100%
9 reviewers Download

Congenital fibrosis of the extraocular muscles


Relevant disorders: R46
Version 1.11

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (3 Mar 2020)
6 of 6
100%
3 reviewers Download

Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders: Hyperinsulinism, R144
Version 2.5

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.3 (25 Feb 2020)
21 of 21
100%
8 reviewers Download

Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Congenital hypothyroidism or thyroid agenesis, R145
Version 2.4

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (25 Feb 2020)
36 of 36
100%

Regions: 2
7 reviewers Download

Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: R79
Version 2.6

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.2 (2 Mar 2020)
58 of 58
100%

STRs: 1
10 reviewers Download

Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Congenital myaesthenia, Congenital myasthenia, R80
Version 2.36

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.2 (2 Mar 2020)
35 of 35
100%
6 reviewers Download

Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: R81
Version 2.28

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.2 (2 Mar 2020)
117 of 120
98%

STRs: 2
Regions: 3
11 reviewers Download

Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Corneal abnormalities, Corneal dystrophy
Version 1.7

Panel Types: Rare Disease 100K,

42 of 42
100%
5 reviewers Download

Corneal dystrophies


Relevant disorders: R262
Version 1.6

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (19 Feb 2020)
23 of 23
100%
3 reviewers Download

COVID-19 research

Level 2: Viral research

Relevant disorders: Viral susceptibility
Version 1.76

Panel Types: Research,

689 of 693
99%

Regions: 2
25 reviewers Download

Craniosynostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders

Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis, R100
Version 2.23

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (13 Feb 2020)
125 of 125
100%

Regions: 2
10 reviewers Download

CuratorFeaturePanel2_L4

Level 3: CuratorFeaturePanel2_L3
Level 2: CuratorFeaturePanel2_L2
Version 0.0

Panel Types: GMS Rare Disease Virtual,

0
0%
Download

CuratorFeaturePanel3_L4

Level 3: CuratorFeaturePanel3_L3
Level 2: CuratorFeaturePanel3_L2
Version 0.0

Panel Types: Rare Disease 100K,

0
0%
Download

CuratorFeaturePanel4_L4

Level 3: CuratorFeaturePanel4_L3
Level 2: CuratorFeaturePanel4_L2
Version 0.0

Panel Types: Cancer Germline 100K,

0
0%
Download

CuratorFeaturePanel5_L4

Level 3: CuratorFeaturePanel5_L3
Level 2: CuratorFeaturePanel5_L2
Version 0.0

Panel Types: Cancer Germline 100K,

0
0%
Download

CuratorFeaturePanel6_L4

Level 3: CuratorFeaturePanel6_L3
Level 2: CuratorFeaturePanel6_L2
Version 0.0

Panel Types: Cancer Germline 100K,

0
0%
Download

Currarino triad


Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

11 of 11
100%
3 reviewers Download

Cutaneous photosensitivity with a likely genetic cause


Relevant disorders: R237
Version 1.7

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.3 (15 Oct 2020)
12 of 12
100%
5 reviewers Download

Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders

Relevant disorders: Cystic kidney disease
Version 2.27

Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off,

Latest signed off version: v2.26 (8 Apr 2021)
68 of 71
96%

Regions: 2
10 reviewers Download

Cystic renal disease


Relevant disorders: Cystic renal disease - PKD1, R193
Version 3.88

Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off,

Latest signed off version: v3.87 (8 Apr 2021)
165 of 172
96%

Regions: 4
23 reviewers Download

Cytopenia - NOT Fanconi anaemia


Relevant disorders: R91
Version 1.36

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.29 (15 Oct 2020)
125 of 125
100%
10 reviewers Download

Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders

Relevant disorders: Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria, Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria, Congenital anaemias, Early onset pancytopenia and red cell disorders, Anaemias and red cell disorders, Cytopaenias and congenital anaemias, Cytopenia and pancytopenia
Version 1.84

Panel Types: Rare Disease 100K,

220 of 220
100%
17 reviewers Download

DDG2P

Version 2.21

Panel Types: GMS Rare Disease, GMS signed-off, Component Of Super Panel,

Latest signed off version: v2.2 (13 Feb 2020)
1914 of 1914
100%
10 reviewers Download

Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders

Relevant disorders: Bilateral microtia, Ear malformations with hearing impairment, Ear malformations, Familial hemifacial microsomia
Version 1.17

Panel Types: Rare Disease 100K,

56 of 57
98%

Regions: 3
8 reviewers Download

Diabetes - neonatal onset

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders: Neonatal diabetes (diagnosed less than 6 months), Neonatal diabetes, Neonatal diabetes diagnosed <6 months, R143
Version 2.33

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (19 Feb 2020)
33 of 34
97%

Regions: 1
6 reviewers Download

Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders:
Version 1.60

Panel Types: Rare Disease 100K,

64 of 65
98%

Regions: 1
7 reviewers Download

Dilated cardiomyopathy - adult and teen

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: R132
Version 1.13

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v1.6 (15 Oct 2020)
53 of 53
100%
11 reviewers Download

Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Dilated Cardiomyopathy, Dilated Cardiomyopathy (DCM), Dilated cardiomyopathy - teen and adult
Version 1.67

Panel Types: Rare Disease 100K,

84 of 84
100%
14 reviewers Download

Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders

Relevant disorders: R146
Version 2.45

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (3 Mar 2020)
66 of 66
100%

Regions: 2
12 reviewers Download

Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29

Panel Types: GMS signed-off, Rare Disease 100K, Component Of Super Panel,

Latest signed off version: v1.21 (11 Nov 2020)
32 of 32
100%

STRs: 2
5 reviewers Download

Ductal plate malformation


Relevant disorders: Ductal plate malformation (DPM), Polycystic liver disease
Version 1.16

Panel Types: Rare Disease 100K,

57 of 150
38%
4 reviewers Download

Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.48

Panel Types: Rare Disease 100K,

40 of 40
100%

STRs: 9
8 reviewers Download

Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.86

Panel Types: Rare Disease 100K,

68 of 115
59%

STRs: 4
18 reviewers Download

Ectodermal dysplasia


Relevant disorders: R163
Version 1.19

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.10 (15 Oct 2020)
76 of 76
100%
14 reviewers Download

Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders

Relevant disorders:
Version 1.21

Panel Types: Rare Disease 100K,

30 of 30
100%
6 reviewers Download

Ehlers Danlos syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders

Relevant disorders: Classical Ehlers Danlos Syndrome, Classical Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense), Ehlers-Danlos syndrome type 3, Kyphoscoliotic Ehlers-Danlos syndrome, EDS, Ehlers-Danlos syndromes, R101
Version 2.57

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.3 (4 Mar 2020)
76 of 76
100%
15 reviewers Download

Endocrine neoplasms


Relevant disorders: R217
Version 1.22

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.3 (15 Oct 2020)
14 of 14
100%
7 reviewers Download

Endometrial cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Endometrial Carcinoma
Version 1.0

Panel Types: Cancer Germline 100K,

6 of 6
100%
2 reviewers Download

Epidermodysplasia verruciformis


Relevant disorders: R255
Version 1.4

Panel Types: GMS signed-off, GMS Rare Disease Virtual, GMS Rare Disease,

Latest signed off version: v1.3 (15 Oct 2020)
7 of 7
100%
2 reviewers Download

Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.6

Panel Types: Rare Disease 100K,

21 of 21
100%
4 reviewers Download

Epidermolysis bullosa and congenital skin fragility


Relevant disorders: R164
Version 1.48

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.3 (15 Oct 2020)
46 of 46
100%
9 reviewers Download

Erythropoietic protoporphyria, mild variant

Level 3: Sun-exposure related conditions
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

2 of 2
100%
2 reviewers Download

Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.14

Panel Types: Rare Disease 100K,

26 of 26
100%
5 reviewers Download

Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Familial breast and or ovarian cancer
Version 1.13

Panel Types: Rare Disease 100K,

26 of 26
100%
5 reviewers Download

Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.10

Panel Types: Rare Disease 100K,

16 of 16
100%
6 reviewers Download

Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

25 of 25
100%
3 reviewers Download

Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders: Familial young-onset non-insulin-dependent diabetes
Version 1.59

Panel Types: Rare Disease 100K,

55 of 57
96%

Regions: 1
7 reviewers Download

Familial disseminated superficial actinic porokeratosis

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

7 of 7
100%
3 reviewers Download

Familial dysautonomia

Version 1.9

Panel Types: Rare Disease 100K,

22 of 22
100%
6 reviewers Download

Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

11 of 11
100%
2 reviewers Download

Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

Panel Types: Rare Disease 100K,

63 of 63
100%
8 reviewers Download

Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders: Familial Hypercholesterolaemia, Familial Hypercholesterolemia
Version 1.27

Panel Types: Rare Disease 100K,

43 of 43
100%
8 reviewers Download

Familial hypercholesterolaemia - targeted panel


Relevant disorders: R134
Version 1.9

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (17 Feb 2020)
6 of 6
100%
9 reviewers Download

Familial hyperparathyroidism


Relevant disorders: R151
Version 2.13

Panel Types: GMS Rare Disease Virtual, GMS signed-off, Rare Disease 100K,

Latest signed off version: v2.3 (3 Mar 2020)
10 of 10
100%
3 reviewers Download

Familial hypoparathyroidism

Level 3: Disorders of calcium homeostasis
Level 2: Endocrine disorders

Relevant disorders: Familial or syndromic hypoparathyroidism, R153
Version 2.5

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (25 Feb 2020)
9 of 9
100%
4 reviewers Download

Familial melanoma


Relevant disorders: R254
Version 1.7

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (4 Mar 2020)
8 of 8
100%
6 reviewers Download

Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

Panel Types: Rare Disease 100K,

14 of 130
11%
4 reviewers Download

Familial Neural Tube Defects

Version 1.10

Panel Types: Rare Disease 100K,

4 of 44
9%
3 reviewers Download

Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders

Relevant disorders: Fallots tetralogy, Hypoplastic Left Heart Syndrome, Left Ventricular Outflow Tract obstruction disorders, Pulmonary atresia, Transposition of the great vessels, Familial non-syndromic congenital heart disease, Familial congenital heart disease, Congenital heart disease, Syndromic congenital heart disease, Isomerism and laterality disorders
Version 1.57

Panel Types: Rare Disease 100K,

52 of 59
88%

Regions: 8
13 reviewers Download

Familial prostate cancer


Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

14 of 14
100%
2 reviewers Download

Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.13

Panel Types: Rare Disease 100K,

72 of 72
100%
10 reviewers Download

Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders: Familial rhabdomyosarcoma or sarcoma, Familial rhabdoid tumours
Version 1.4

Panel Types: Rare Disease 100K,

18 of 18
100%
2 reviewers Download

Familial tumoral calcinosis


Relevant disorders: R162
Version 1.7

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (19 Feb 2020)
4 of 4
100%
2 reviewers Download

Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders: Familial tumour syndromes of the central & peripheral nervous system, Familial tumour syndromes of the central and peripheral nervous system
Version 1.9

Panel Types: Rare Disease 100K,

14 of 22
64%

Regions: 1
2 reviewers Download

Fetal anomalies


Relevant disorders: R21, Fetal anomalies with a likely genetic cause
Version 1.638

Panel Types: GMS signed-off, GMS Rare Disease Virtual,

Latest signed off version: v1.637 (30 Jun 2021)
1889 of 1889
100%

Regions: 1
16 reviewers Download

Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders:
Version 1.25

Panel Types: Rare Disease 100K,

89 of 89
100%

STRs: 1
9 reviewers Download

Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders:
Version 1.59

Panel Types: Rare Disease 100K,

65 of 83
78%
9 reviewers Download

Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders: Neonatal and familial gastrointestinal neuromuscular disorders, Infantile pseudo-obstruction, Early onset or familial intestinal pseudo obstruction
Version 1.12

Panel Types: Rare Disease 100K,

28 of 28
100%

STRs: 1
7 reviewers Download

Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.9

Panel Types: Rare Disease 100K,

12 of 12
100%
4 reviewers Download

Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.7

Panel Types: Actionable,

21 of 21
100%
1 reviewer Download

Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Epilepsy Plus, Epilepsy plus other features, Genetic Epilepsy Syndromes, Epileptic encephalopathy, Familial Focal Epilepsies, Familial Genetic Generalised Epilepsies, Genetic Epilepsies with Febrile Seizures Plus (GEFS+), Genetic Epilepsies with Febrile Seizures Plus, Early onset or syndromic epilepsy, R59
Version 2.307

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual,

Latest signed off version: v2.2 (13 Feb 2020)
728 of 728
100%

STRs: 2
Regions: 15
33 reviewers Download

Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes

Relevant disorders:
Version 1.6

Panel Types: Rare Disease 100K,

10 of 13
77%
6 reviewers Download

Genomic imprinting

Version 0.94

Panel Types: Research,

126 of 231
55%
4 reviewers Download

GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes

Relevant disorders: GI tract tumours, Familial colon cancer, Multiple bowel polyps, Peutz-Jeghers syndrome, GI tract, Inherited colorectal cancer (with or without polyposis)
Version 1.18

Panel Types: Rare Disease 100K,

30 of 30
100%
10 reviewers Download

Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.12

Panel Types: Rare Disease 100K,

32 of 232
14%
9 reviewers Download

Glycogen storage disease


Relevant disorders: R274
Version 1.6

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (18 Feb 2020)
29 of 29
100%
5 reviewers Download

Groopman et al 2019 - Genes with diagnostic variants

Version 0.8

Panel Types: Submitted List,

66 of 66
100%
1 reviewer Download

Growth failure in early childhood


Relevant disorders: R147
Version 1.58

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v1.4 (3 Mar 2020)
129 of 148
87%

Regions: 5
10 reviewers Download

Growth failure in early childhood TEST

Version 0.2

0 of 24
0%
0 reviewers Download

Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Haemonc, Haematological malignancies pertinent cancer susceptibility
Version 2.15

Panel Types: GMS signed-off, Cancer Germline 100K, GMS Cancer Germline Virtual,

Latest signed off version: v2.2 (18 Feb 2020)
97 of 97
100%
6 reviewers Download

Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

Panel Types: Rare Disease 100K,

89 of 89
100%
3 reviewers Download

Haematuria

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders

Relevant disorders: Alport syndrome, Familial haematuria, R194
Version 2.11

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.4 (15 Oct 2020)
8 of 8
100%
6 reviewers Download

Head and neck cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Nasopharyngeal, Oral Oropharyngeal, Sinonasal
Version 1.0

Panel Types: Cancer Germline 100K,

12 of 12
100%
4 reviewers Download

Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders

Relevant disorders: Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe), R67
Version 2.159

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v2.158 (29 Jun 2021)
396 of 396
100%
15 reviewers Download

Hereditary ataxia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.212

Panel Types: Rare Disease 100K,

176 of 179
98%

STRs: 14
Regions: 3
13 reviewers Download

Hereditary ataxia - adult onset


Relevant disorders: Hereditary ataxia with onset in adulthood, R54
Version 2.25

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.13 (6 Oct 2020)
255 of 256
100%

STRs: 14
Regions: 4
8 reviewers Download

Hereditary ataxia and cerebellar anomalies - childhood onset


Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies, R55, R84
Version 6.140

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Latest signed off version: v6.51 (9 Oct 2020)
261 of 439
59%

STRs: 14
Regions: 3
21 reviewers Download

Hereditary Erythrocytosis

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders

Relevant disorders: R405
Version 1.35

Panel Types: GMS signed-off, GMS Rare Disease, Rare Disease 100K,

Latest signed off version: v1.19 (30 Sep 2020)
15 of 15
100%
6 reviewers Download

Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders

Relevant disorders: Familial and multiple pulmonary arteriovenous malformations, R186
Version 2.6

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (2 Mar 2020)
15 of 15
100%
10 reviewers Download

Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Charcot-Marie-Tooth disease
Version 1.383

Panel Types: Rare Disease 100K,

296 of 296
100%

STRs: 12
Regions: 2
24 reviewers Download

Hereditary neuropathy NOT PMP22 copy number


Relevant disorders: Hereditary neuropathy or pain disorder – NOT PMP22 copy number, R78
Version 1.26

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.2 (27 Feb 2020)
294 of 294
100%

STRs: 1
20 reviewers Download

Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.219

Panel Types: Rare Disease 100K,

121 of 122
99%

STRs: 10
17 reviewers Download

Hereditary spastic paraplegia - adult onset


Relevant disorders: Adult onset hereditary spastic paraplegia, R60
Version 1.17

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.12 (15 Oct 2020)
113 of 113
100%

STRs: 10
9 reviewers Download

Hereditary spastic paraplegia - childhood onset


Relevant disorders: Childhood onset hereditary spastic paraplegia, R61
Version 2.28

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.18 (8 Oct 2020)
126 of 126
100%

STRs: 10
13 reviewers Download

Holoprosencephaly

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly - NOT chromosomal, R85
Version 2.15

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off,

Latest signed off version: v2.10 (1 Apr 2021)
24 of 24
100%
11 reviewers Download

Hydroa vacciniforme

Level 3: Sun-exposure related conditions
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

3 of 3
100%
1 reviewer Download

Hydrocephalus


Relevant disorders: Hydrocephalus, R86
Version 2.11

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off,

Latest signed off version: v2.3 (2 Mar 2020)
105 of 105
100%
8 reviewers Download

Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.8

Panel Types: Rare Disease 100K,

106 of 106
100%
7 reviewers Download

Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders

Relevant disorders: Resistance to thyroid hormone, R182
Version 2.7

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (19 Feb 2020)
8 of 8
100%
7 reviewers Download

Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders: Hypertrophic Cardiomyopathy, HCM, R131
Version 2.18

Panel Types: GMS Rare Disease Virtual, GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.11 (15 Oct 2020)
74 of 74
100%

STRs: 1
15 reviewers Download

Hypocalciuric hypercalcaemia


Relevant disorders: R152
Version 2.8

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (3 Mar 2020)
3 of 3
100%
2 reviewers Download

Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders

Relevant disorders: Kallmann syndrome, Kallmann syndrom, Idiopathic hypogonadotropic hypogonadism
Version 1.29

Panel Types: Rare Disease 100K,

46 of 46
100%
12 reviewers Download

Hypogonadotropic hypogonadism idiopathic


Relevant disorders: R148
Version 1.30

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v1.4 (4 Mar 2020)
40 of 40
100%
6 reviewers Download

Hypophosphataemia or rickets


Relevant disorders: R154
Version 2.14

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (3 Mar 2020)
18 of 18
100%
4 reviewers Download

Hypotonic infant


Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant with a likely central cause, R69
Version 9.1336

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Latest signed off version: v9.41 (4 Mar 2020)
3605 of 3879
93%

STRs: 21
Regions: 66
66 reviewers Download

Ichthyosis and erythrokeratoderma


Relevant disorders: R165
Version 1.60

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.3 (15 Oct 2020)
67 of 68
99%

Regions: 1
12 reviewers Download

Idiopathic ventricular fibrillation

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.1

Panel Types: Rare Disease 100K,

5 of 5
100%
2 reviewers Download

Inborn errors of metabolism


Relevant disorders: Likely inborn error of metabolism - targeted testing not possible, Likely inborn error of metabolism, R98
Version 2.103

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Component Of Super Panel,

Latest signed off version: v2.3 (17 Feb 2020)
757 of 903
84%

STRs: 3
Regions: 1
22 reviewers Download

Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders

Relevant disorders: Infantile enterocolitis and monogenic inflammatory bowel disease
Version 1.19

Panel Types: Rare Disease 100K,

67 of 67
100%
9 reviewers Download

Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.3

Panel Types: Rare Disease 100K,

18 of 18
100%
5 reviewers Download

Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders

Relevant disorders: Inherited platelet disorders, Monogenic thrombophilia, Inherited bleeding and or platelet disorders, Unprovoked Thrombosis before 40, Monogenic venous thrombosis
Version 1.158

Panel Types: Rare Disease 100K,

113 of 119
95%
8 reviewers Download

Inherited MMR deficiency (Lynch syndrome)


Relevant disorders: R210
Version 1.9

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (4 Mar 2020)
5 of 5
100%
4 reviewers Download

Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders:
Version 1.5

Panel Types: Rare Disease 100K,

30 of 30
100%
5 reviewers Download

Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Familial ovarian cancer, R207
Version 2.20

Panel Types: Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (4 Mar 2020)
10 of 26
38%
8 reviewers Download

Inherited pancreatic cancer


Relevant disorders: R367
Version 1.17

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (4 Mar 2020)
12 of 12
100%
6 reviewers Download

Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Neuro-endocrine Tumours- PCC and PGL
Version 1.6

Panel Types: Rare Disease 100K,

20 of 20
100%
5 reviewers Download

Inherited phaeochromocytoma and paraganglioma excluding NF1


Relevant disorders: R223
Version 1.15

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.4 (11 Nov 2020)
17 of 17
100%
5 reviewers Download

Inherited polyposis


Relevant disorders: R211, R209
Version 1.24

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (4 Mar 2020)
17 of 17
100%
11 reviewers Download

Inherited predisposition to acute myeloid leukaemia (AML)


Relevant disorders: R347
Version 1.19

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (3 Mar 2020)
14 of 14
100%
6 reviewers Download

Inherited predisposition to GIST


Relevant disorders: R363
Version 1.11

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (4 Mar 2020)
7 of 7
100%
6 reviewers Download

Inherited renal cancer


Relevant disorders: R224
Version 1.21

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (4 Mar 2020)
16 of 16
100%
7 reviewers Download

Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Leukodystrophy - adult onset
Version 1.87

Panel Types: Rare Disease 100K,

165 of 168
98%
11 reviewers Download

Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders: Insulin resistance (including lipodystrophy
Version 1.12

Panel Types: Rare Disease 100K,

26 of 26
100%
5 reviewers Download

Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Coarse facial features including Coffin-Siris-like disorders, ID, Moderate, severe or profound intellectual disability, Schizophrenia plus additional features, Intellectual disability - microarray, fragile X and sequencing, R29
Version 3.991

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel,

Latest signed off version: v3.2 (13 Feb 2020)
2413 of 2533
95%

STRs: 12
Regions: 57
47 reviewers Download

Intestinal failure


Relevant disorders: R331
Version 1.12

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (4 Mar 2020)
19 of 19
100%
8 reviewers Download

Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.27

Panel Types: Rare Disease 100K,

32 of 32
100%
11 reviewers Download

Iron metabolism disorders


Relevant disorders: R96
Version 1.33

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (3 Mar 2020)
26 of 26
100%
8 reviewers Download

IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders

Relevant disorders:
Version 1.35

Panel Types: Rare Disease 100K,

108 of 115
94%

Regions: 5
13 reviewers Download

Juvenile dermatomyositis

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.3

Panel Types: Rare Disease 100K,

0 of 5
0%
0 reviewers Download

Kabuki syndrome

Level 3: Kabuki
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

5 of 5
100%
6 reviewers Download

Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

45 of 45
100%
5 reviewers Download

Kleine-Levin syndrome

Level 3: Sleep disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Kleine-Levin syndrome and other inherited sleep disorders
Version 1.7

Panel Types: Rare Disease 100K,

13 of 13
100%
4 reviewers Download

Laterality disorders and isomerism


Relevant disorders: R139
Version 1.21

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.19 (15 Oct 2020)
63 of 63
100%
7 reviewers Download

Leber hereditary optic neuropathy


Relevant disorders: R42
Version 1.9

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (18 Feb 2020)
5 of 5
100%
7 reviewers Download

Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.4

Panel Types: Rare Disease 100K,

16 of 16
100%
2 reviewers Download

Limb disorders

Version 2.39

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel,

Latest signed off version: v2.2 (13 Feb 2020)
249 of 251
99%

Regions: 1
17 reviewers Download

Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: R82
Version 2.18

Panel Types: GMS Rare Disease, GMS signed-off, Rare Disease 100K, Component Of Super Panel,

Latest signed off version: v2.4 (2 Mar 2020)
93 of 93
100%
14 reviewers Download

Lipodystrophy - childhood onset


Relevant disorders: R158
Version 2.9

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.4 (19 Feb 2020)
16 of 16
100%
10 reviewers Download

Lipoprotein lipase deficiency


Relevant disorders: R324
Version 1.15

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.3 (15 Oct 2020)
10 of 10
100%
3 reviewers Download

Long QT syndrome

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Long QT, R127
Version 2.28

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.20 (20 Aug 2020)
22 of 22
100%
13 reviewers Download

Lung cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Lung
Version 1.1

Panel Types: Cancer Germline 100K,

0 of 0
0%
0 reviewers Download

Lysosomal storage disorder


Relevant disorders: R276
Version 1.70

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (18 Feb 2020)
54 of 54
100%
4 reviewers Download

Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.44

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.2 (25 Feb 2020)
109 of 110
99%

Regions: 1
11 reviewers Download

Melanoma pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Malignant Melanoma
Version 1.0

Panel Types: Cancer Germline 100K,

3 of 3
100%
2 reviewers Download

Membranoproliferative glomerulonephritis

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders

Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis, Primary membranoproliferative glomerulonephritis, R197
Version 2.16

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.13 (16 Oct 2020)
9 of 9
100%
8 reviewers Download

Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders

Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features
Version 2.20

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off,

Latest signed off version: v2.4 (17 Feb 2020)
470 of 473
99%

STRs: 2
Regions: 1
16 reviewers Download

Mitochondrial disorder with complex I deficiency


Relevant disorders: R353
Version 1.9

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (17 Feb 2020)
51 of 51
100%
6 reviewers Download

Mitochondrial disorder with complex II deficiency


Relevant disorders: R354
Version 1.3

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (17 Feb 2020)
8 of 8
100%
5 reviewers Download

Mitochondrial disorder with complex III deficiency


Relevant disorders: R355
Version 1.3

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (17 Feb 2020)
15 of 15
100%
5 reviewers Download

Mitochondrial disorder with complex IV deficiency


Relevant disorders: R356
Version 1.10

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (17 Feb 2020)
41 of 41
100%
8 reviewers Download

Mitochondrial disorder with complex V deficiency


Relevant disorders: R357
Version 1.3

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (17 Feb 2020)
19 of 19
100%
6 reviewers Download

Mitochondrial DNA maintenance disorder


Relevant disorders: R352
Version 1.3

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (17 Feb 2020)
27 of 27
100%
8 reviewers Download

Mitochondrial liver disease


Relevant disorders: R317
Version 1.4

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (17 Feb 2020)
11 of 11
100%
6 reviewers Download

Monogenic diabetes


Relevant disorders: R141
Version 2.41

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (25 Feb 2020)
74 of 78
95%

Regions: 1
7 reviewers Download

Monogenic nephrogenic diabetes insipidus


Relevant disorders: monogenic nephrogenic diabetes insipidus
Version 1.8

Panel Types: Rare Disease 100K,

5 of 5
100%
3 reviewers Download

Mosaic skin disorders - deep sequencing


Relevant disorders: R327
Version 1.5

Panel Types: GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.3 (15 Oct 2020)
46 of 46
100%
5 reviewers Download

Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

18 of 18
100%
3 reviewers Download

Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders

Relevant disorders:
Version 1.8

Panel Types: Rare Disease 100K,

42 of 42
100%
3 reviewers Download

Multiple endocrine tumours

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Multiple endocrine tumours, Multiple endocrine neoplasia type 1, Endocrine neoplasia
Version 1.9

Panel Types: Rare Disease 100K,

16 of 16
100%
6 reviewers Download

Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

11 of 11
100%
4 reviewers Download

Multiple lipomas


Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

4 of 4
100%
1 reviewer Download

Multiple monogenic benign skin tumours


Relevant disorders: R230
Version 1.12

Panel Types: GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.3 (15 Oct 2020)
44 of 44
100%
3 reviewers Download

Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.17

Panel Types: Rare Disease 100K,

94 of 95
99%

Regions: 1
12 reviewers Download

Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders

Relevant disorders: Renal tract calcification (or Nephrolithiasis or nephrocalcinosis), Renal tract calcification (or Nephrolithiasis/nephrocalcinosis), R256
Version 2.16

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (13 Feb 2020)
47 of 47
100%
11 reviewers Download

Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS

Level 2: Renal and urinary tract disorders
Version 0.3

Panel Types: External Diagnostic Lab,

0 of 30
0%
0 reviewers Download

Neurodegenerative disorders - adult onset


Relevant disorders: Adult onset neurodegenerative disorder, R58
Version 2.43

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v2.31 (8 Oct 2020)
375 of 422
89%

STRs: 16
Regions: 4
14 reviewers Download

Neuroendocrine cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: phaeochromocytoma, paraganglioma, carcinoid, Neuroendocrine
Version 1.0

Panel Types: Cancer Germline 100K,

12 of 12
100%
2 reviewers Download

Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes

Relevant disorders:
Version 1.26

Panel Types: Rare Disease 100K,

30 of 31
97%

Regions: 1
8 reviewers Download

Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.15

Panel Types: GMS signed-off, Component Of Super Panel,

Latest signed off version: v1.5 (4 Mar 2020)
63 of 63
100%
16 reviewers Download

Neurological segmental overgrowth

Version 1.8

Panel Types: GMS Rare Disease, GMS signed-off, Component Of Super Panel,

Latest signed off version: v1.4 (4 Mar 2020)
8 of 12
67%
4 reviewers Download

Neuromuscular disorders


Relevant disorders: Other rare neuromuscular disorders, R381
Version 5.162

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Latest signed off version: v5.43 (4 Mar 2020)
435 of 443
98%

STRs: 6
Regions: 8
26 reviewers Download

Neuronal ceroid lipofuscinosis


Relevant disorders: R231
Version 1.23

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.3 (15 Oct 2020)
14 of 14
100%
3 reviewers Download

Neurotransmitter disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.6

Panel Types: Rare Disease 100K,

18 of 18
100%
4 reviewers Download

Non-acute porphyrias


Relevant disorders: R168
Version 1.21

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.4 (15 Oct 2020)
9 of 9
100%
8 reviewers Download

Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders:
Version 1.26

Panel Types: Rare Disease 100K,

17 of 17
100%
4 reviewers Download

Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.6

Panel Types: Rare Disease 100K,

51 of 51
100%
2 reviewers Download

Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.7

Panel Types: Rare Disease 100K,

13 of 13
100%
3 reviewers Download

Ocular and oculo-cutaneous albinism


Relevant disorders:
Version 1.21

Panel Types: Rare Disease 100K,

15 of 15
100%
8 reviewers Download

Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders

Relevant disorders:
Version 1.43

Panel Types: Rare Disease 100K,

66 of 67
99%

Regions: 2
13 reviewers Download

Ophthalmological ciliopathies

Version 1.17

Panel Types: GMS signed-off, Component Of Super Panel,

Latest signed off version: v1.3 (19 Feb 2020)
90 of 90
100%
17 reviewers Download

Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Inherited optic neuropathies, R41, R42.2
Version 2.38

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (19 Feb 2020)
57 of 57
100%
13 reviewers Download

Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Osteogenesis Imperfecta, R102
Version 2.13

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (13 Feb 2020)
189 of 189
100%
16 reviewers Download

Osteopetrosis

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: R104.4
Version 1.26

Panel Types: GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.1 (21 Sep 2020)
20 of 20
100%
2 reviewers Download

Ovarian cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Ovarian
Version 1.6

Panel Types: GMS signed-off, GMS Cancer Germline Virtual, Cancer Germline 100K,

Latest signed off version: v1.5 (26 Jul 2021)
9 of 9
100%
3 reviewers Download

Paediatric disorders


Relevant disorders: Acutely unwell children with a likely monogenic disorder, Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R14, R27
Version 14.1557

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Latest signed off version: v14.43 (4 Mar 2020)
6452 of 6830
94%

STRs: 16
Regions: 72
68 reviewers Download

Paediatric disorders - additional genes

Version 1.84

Panel Types: GMS Rare Disease, GMS signed-off, Component Of Super Panel,

Latest signed off version: v1.1 (11 Feb 2020)
51 of 51
100%
10 reviewers Download

Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.62

Panel Types: GMS Rare Disease, GMS signed-off, Rare Disease 100K, Component Of Super Panel,

Latest signed off version: v1.30 (4 Mar 2020)
40 of 45
89%

STRs: 1
Regions: 5
9 reviewers Download

Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: neuropathic pain, Pain channelopathies
Version 1.9

Panel Types: Rare Disease 100K,

28 of 28
100%
7 reviewers Download

Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders

Relevant disorders:
Version 1.17

Panel Types: Rare Disease 100K,

46 of 46
100%
8 reviewers Download

Palmoplantar keratodermas


Relevant disorders: R166
Version 1.7

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.3 (15 Oct 2020)
69 of 69
100%
5 reviewers Download

Pancreatitis


Relevant disorders: R175
Version 2.7

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (3 Mar 2020)
18 of 18
100%
6 reviewers Download

Panel544_545

Level 3: Panel544_545_3
Level 2: Panel544_545_2
Version 0.12

Panel Types: Cancer Germline 100K,

Latest signed off version: v0.2 (30 Mar 2021)
2 of 3
67%

STRs: 1
Regions: 1
1 reviewer Download

PanelForEditSTR

Level 3: PanelForEditSTR_L3
Level 2: PanelForEditSTR_L2
Version 0.1

Panel Types: Cancer Germline 100K,

1 of 1
100%

STRs: 1
1 reviewer Download

PanelForPublicUser

Level 3: PanelForPublicUser_L3
Level 2: PanelForPublicUser_L2
Version 0.3

Panel Types: Cancer Germline 100K,

3 of 3
100%

STRs: 1
Regions: 1
1 reviewer Download

PanelForReviewer

Level 3: PanelForReviewer_L3
Level 2: PanelForReviewer_L2
Version 0.0

Panel Types: Cancer Germline 100K,

0
0%
Download

PanelViaWebServices1

Level 3: PanelViaWebServices1_L3
Level 2: PanelViaWebServices1_L2
Version 0.6

Panel Types: Cancer Germline 100K,

6 of 6
100%

STRs: 2
Regions: 2
1 reviewer Download

PanelViaWebServices4

Level 3: PanelViaWebServices4_L3
Level 2: PanelViaWebServices4_L2
Version 0.2

Panel Types: Cancer Germline 100K,

1 of 1
100%
1 reviewer Download

Parathyroid Cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes

Relevant disorders: Parathyroid cancer
Version 1.3

Panel Types: Rare Disease 100K,

7 of 7
100%
3 reviewers Download

Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Complex Parkinsonism (includes pallido-pyramidal syndromes), Early onset and familial Parkinson's Disease
Version 1.69

Panel Types: Rare Disease 100K,

80 of 80
100%

STRs: 9
13 reviewers Download

Paroxysmal central nervous system disorders


Relevant disorders: Paroxysmal neurological disorders, pain disorders and sleep disorders, R66
Version 1.10

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (27 Feb 2020)
90 of 90
100%

STRs: 5
Regions: 1
12 reviewers Download

Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

13 of 13
100%
3 reviewers Download

Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders

Relevant disorders: Periodic fever syndromes and amyloidosis
Version 1.12

Panel Types: Rare Disease 100K,

30 of 30
100%
7 reviewers Download

Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders

Relevant disorders: Other peroxisomal disorders, Peroxisomal biogenesis disorders
Version 1.6

Panel Types: Rare Disease 100K,

38 of 38
100%
6 reviewers Download

PHACE(S) syndrome

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2

Panel Types: Rare Disease 100K,

6 of 6
100%
1 reviewer Download

Pigmentary skin disorders


Relevant disorders: R236
Version 1.9

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.4 (15 Oct 2020)
122 of 122
100%

Regions: 1
7 reviewers Download

Pituitary hormone deficiency


Relevant disorders: R159
Version 2.6

Panel Types: GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (3 Mar 2020)
42 of 51
82%
3 reviewers Download

Pityriasis rubra pilaris


Relevant disorders:
Version 1.1

Panel Types: Rare Disease 100K,

1 of 1
100%
1 reviewer Download

Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders

Relevant disorders: Familial Pneumothorax, Familial Primary Spontaneous Pneumothorax, R190
Version 2.37

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.17 (3 Mar 2020)
35 of 35
100%
8 reviewers Download

Polycystic liver disease interim


Relevant disorders: R173
Version 1.23

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.4 (4 Mar 2020)
20 of 20
100%
3 reviewers Download

Possible mitochondrial disorder - nuclear genes


Relevant disorders: R63
Version 1.37

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.17 (11 Nov 2020)
376 of 376
100%
13 reviewers Download

PPanel_SignedOffVersion_L4

Level 3: PPanel_SignedOffVersion_L3
Level 2: PPanel_SignedOffVersion_L2
Version 0.3

Panel Types: Cancer Germline 100K,

Latest signed off version: v0.2 (17 Feb 2021)
0 of 0
0%
0 reviewers Download

Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies

Relevant disorders: Primary ciliary dyskinesia
Version 1.29

Panel Types: Rare Disease 100K,

143 of 143
100%
14 reviewers Download

Primary immunodeficiency


Relevant disorders: Primary immunodeficiency disorders, A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency, SCID, Primary immune disorder, Primary immunodeficiency, A-gammaglobulinaemia, Agammaglobulinaemia, hypo-gammaglobulinaemia, hypogammaglobulinemia, immune deficiency syndromes, Severe combined immunodeficiency, Congenital neutopenia, Familial haemophagocytic lymphohistiocytic disorders, Familial hemophagocytic lymphohistiocytic disorders, PID, Sepsis, Disseminated non-tuberculous mycobacterial infection, R15
Version 2.402

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.1 (24 Feb 2020)
495 of 501
99%

Regions: 2
26 reviewers Download

Primary lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders

Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease, R136
Version 2.8

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.2 (2 Mar 2020)
53 of 53
100%
10 reviewers Download

Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders

Relevant disorders: Early onset familial premature ovarian insufficiency, Early onset familial premature ovarian failure
Version 1.21

Panel Types: Rare Disease 100K,

61 of 61
100%

STRs: 1
9 reviewers Download

Primary pigmented nodular adrenocortical disease


Relevant disorders: R160
Version 1.7

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (19 Feb 2020)
4 of 4
100%
2 reviewers Download

Progressive cardiac conduction disease


Relevant disorders: R328
Version 1.37

Panel Types: GMS signed-off, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v1.5 (20 Aug 2020)
21 of 21
100%
9 reviewers Download

Prostate cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Prostate
Version 1.1

Panel Types: Cancer Germline 100K,

5 of 5
100%
2 reviewers Download

Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders

Relevant disorders: R195
Version 2.48

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.32 (16 Oct 2020)
105 of 105
100%
15 reviewers Download

Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders

Relevant disorders: PAH, R188
Version 2.9

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (2 Mar 2020)
20 of 20
100%
9 reviewers Download

Pyruvate dehydrogenase (PDH) deficiency


Relevant disorders: R316
Version 1.29

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (17 Feb 2020)
26 of 26
100%
6 reviewers Download

Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders:
Version 1.13

Panel Types: Rare Disease 100K,

60 of 60
100%
11 reviewers Download

Rare anaemia


Relevant disorders: R92
Version 1.18

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (3 Mar 2020)
97 of 97
100%
10 reviewers Download

Rare genetic inflammatory skin disorders


Relevant disorders: R332
Version 1.38

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.6 (15 Oct 2020)
66 of 66
100%
6 reviewers Download

Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies

Relevant disorders: Joubert syndrome, Bardet-Biedl Syndrome
Version 1.139

Panel Types: Rare Disease 100K,

201 of 205
98%

Regions: 2
21 reviewers Download

Rare multisystem ciliopathy Super panel

Version 4.91

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Latest signed off version: v4.21 (4 Mar 2020)
315 of 319
99%

Regions: 2
20 reviewers Download

RASopathies

Level 3: RASopathies
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Legius syndrome, Noonan syndrome, Noonan syndrome plus other features
Version 1.75

Panel Types: Rare Disease 100K,

23 of 24
96%

Regions: 1
11 reviewers Download

Refuted genes


Relevant disorders:
Version 0.13

Panel Types: Reference,

5 of 5
100%
3 reviewers Download

Renal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Renal
Version 1.1

Panel Types: Cancer Germline 100K,

10 of 10
100%
2 reviewers Download

Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.41

Panel Types: Component Of Super Panel, GMS signed-off,

Latest signed off version: v1.40 (6 Apr 2021)
97 of 101
96%

Regions: 2
18 reviewers Download

Renal superpanel - broad

Level 2: Renal and urinary tract disorders
Version 2.364

Panel Types: Super Panel,

892 of 984
91%

Regions: 11
42 reviewers Download

Renal superpanel - narrow

Level 2: Renal and urinary tract disorders
Version 2.322

Panel Types: Super Panel,

532 of 540
99%

Regions: 5
41 reviewers Download

Renal tubulopathies

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders

Relevant disorders: Renal tubular acidosis, R198
Version 2.25

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.23 (16 Oct 2020)
60 of 60
100%
11 reviewers Download

Respiratory ciliopathies including non-CF bronchiectasis


Relevant disorders: R189
Version 1.43

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.3 (2 Mar 2020)
71 of 71
100%
17 reviewers Download

Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders

Relevant disorders: Possible X-linked retinitis pigmentosa, Sorsby retinal dystrophy, Doyne retinal dystrophy, Posterior segment abnormalities, Cone Dysfunction Syndrome, Developmental macular and foveal dystrophy, Inherited macular dystrophy, Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy, Rod Dysfunction Syndrome, Rod-cone dystrophy, Familial exudative vitreoretinopathy, Familial exudative retinopathy, R32, R33, R34, R35
Version 2.173

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off,

Latest signed off version: v2.7 (25 Feb 2020)
390 of 390
100%
25 reviewers Download

Rhabdoid tumour predisposition


Relevant disorders: R358
Version 1.6

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (4 Mar 2020)
2 of 2
100%
4 reviewers Download

Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.43

Panel Types: GMS Rare Disease, GMS signed-off, Rare Disease 100K, Component Of Super Panel,

Latest signed off version: v1.34 (4 Mar 2020)
60 of 60
100%
7 reviewers Download

RPanel_SignedOffVersion_L4

Level 3: RPanel_SignedOffVersion_L3
Level 2: RPanel_SignedOffVersion_L2
Version 0.3

Panel Types: Cancer Germline 100K,

Latest signed off version: v0.2 (17 Feb 2021)
0 of 0
0%
0 reviewers Download

Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Sarcoma, Sarcoma pertinent cancer susceptibility
Version 1.20

Panel Types: Cancer Germline 100K,

33 of 33
100%
8 reviewers Download

Sarcoma susceptibility

Version 1.75

Panel Types: GMS signed-off, GMS Cancer Germline Virtual,

Latest signed off version: v1.74 (8 Apr 2021)
43 of 43
100%
11 reviewers Download

Segmental overgrowth disorders


Relevant disorders: Regional overgrowth disorders, R110
Version 2.10

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel,

Latest signed off version: v2.1 (24 Feb 2020)
13 of 16
81%
7 reviewers Download

Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders

Relevant disorders: Significant early-onset obesity with or without other endocrine features and short stature, Significant early-onset obesity +/- other endocrine features and short stature, R149
Version 2.37

Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v2.2 (18 Feb 2020)
42 of 42
100%

Regions: 3
7 reviewers Download

Severe familial anorexia

Level 3: Disorders of extremely low weight , severe familial anorexia
Level 2: Metabolic disorders
Version 1.3

Panel Types: Rare Disease 100K,

1 of 1
100%
1 reviewer Download

Severe hypertriglyceridaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders

Relevant disorders:
Version 1.12

Panel Types: Rare Disease 100K,

8 of 8
100%
3 reviewers Download

Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum, Severe microcephaly, R88
Version 2.103

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual,

Latest signed off version: v2.2 (2 Mar 2020)
205 of 205
100%

Regions: 5
16 reviewers Download

Severe multi-system atopic disease with high IgE

Level 3: Atopy
Level 2: Dermatological disorders

Relevant disorders:
Version 1.7

Panel Types: Rare Disease 100K,

5 of 8
62%
3 reviewers Download

Severe Paediatric Disorders

Version 1.66

Panel Types: Research,

2691 of 2691
100%
6 reviewers Download

Short QT syndrome


Relevant disorders: R130
Version 2.13

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v2.4 (20 Aug 2020)
38 of 40
95%
12 reviewers Download

Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders

Relevant disorders: Silver-Russell syndrome
Version 1.11

Panel Types: Rare Disease 100K,

9 of 9
100%
6 reviewers Download

Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.10

Panel Types: GMS signed-off, Component Of Super Panel,

Latest signed off version: v1.2 (19 Feb 2020)
65 of 65
100%
13 reviewers Download

Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia, R104
Version 2.83

Panel Types: GMS signed-off, Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel,

Latest signed off version: v2.2 (13 Feb 2020)
502 of 592
85%

STRs: 1
Regions: 6
20 reviewers Download

Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.27

Panel Types: Rare Disease 100K,

24 of 24
100%

STRs: 2
7 reviewers Download

Skeletal muscle channelopathy


Relevant disorders: R76, Myotonia congenita
Version 1.21

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.2 (2 Mar 2020)
19 of 19
100%

STRs: 2
4 reviewers Download

Stickler syndrome

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: R45
Version 2.16

Panel Types: GMS Rare Disease Virtual, Rare Disease 100K, GMS Rare Disease, GMS signed-off,

Latest signed off version: v2.2 (19 Feb 2020)
10 of 10
100%
6 reviewers Download

Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders:
Version 1.18

Panel Types: Rare Disease 100K,

77 of 77
100%

STRs: 1
7 reviewers Download

Structural eye disease


Relevant disorders: R36
Version 1.52

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.3 (4 Mar 2020)
473 of 474
100%

Regions: 2
13 reviewers Download

Sudden cardiac death


Relevant disorders: Molecular autopsy, R138, R408
Version 9.186

Panel Types: GMS signed-off, GMS Rare Disease, GMS Rare Disease Virtual, Super Panel,

Latest signed off version: v9.78 (15 Oct 2020)
261 of 263
99%

STRs: 1
24 reviewers Download

Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders

Relevant disorders: Unexplained sudden death in the young
Version 1.15

Panel Types: Rare Disease 100K,

34 of 35
97%
8 reviewers Download

Superpanel_TEST

Version 2.20

Panel Types: GMS Rare Disease Virtual,

Latest signed off version: v2.15 (29 Mar 2021)
70 of 72
97%
19 reviewers Download

Surfactant deficiency


Relevant disorders: R192
Version 1.9

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (2 Mar 2020)
8 of 8
100%
3 reviewers Download

Testicular cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Testicular Germ Cell Tumours
Version 1.1

Panel Types: Cancer Germline 100K,

0 of 0
0%
0 reviewers Download

Test MOI validation panel - do not edit

Version 1.0

Panel Types: Testing,

4 of 31
13%
1 reviewer Download

TEST_OCT_2020_1

Version 1.0

Panel Types: Testing,

8 of 10
80%

STRs: 1
Regions: 2
6 reviewers Download

TestPanel

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.75

18 of 35
51%

STRs: 2
Regions: 3
8 reviewers Download

TestPanelApril2021

Level 3: TestPanelApril2021
Level 2: TestPanelApril2021
Version 0.0

Panel Types: Cancer Germline 100K,

0
0%
Download

Thoracic aortic aneurysm and dissection


Relevant disorders: R125
Version 1.3

Panel Types: GMS signed-off, GMS Rare Disease Virtual,

Latest signed off version: v1.2 (19 Feb 2020)
64 of 64
100%
20 reviewers Download

Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders

Relevant disorders: Familial retinal arteriolar tortuosity, FTAAD, Familial Thoracic Aortic Aneurysm Disease
Version 1.112

Panel Types: Rare Disease 100K,

63 of 63
100%
19 reviewers Download

Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders:
Version 1.12

Panel Types: Rare Disease 100K,

134 of 134
100%

STRs: 1
9 reviewers Download

Thrombocythaemia

Level 3: Haemostasis disorders
Level 2: Haematological disorders

Relevant disorders: R406
Version 1.2

Panel Types: GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.1 (30 Sep 2020)
5 of 5
100%
3 reviewers Download

Thrombophilia


Relevant disorders: R97
Version 1.18

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (3 Mar 2020)
20 of 20
100%
7 reviewers Download

Thyroid cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Endocrine
Version 1.0

Panel Types: Cancer Germline 100K,

2 of 5
40%
1 reviewer Download

Tubulointerstitial kidney disease


Relevant disorders: R202
Version 1.11

Panel Types: GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.3 (4 Mar 2020)
25 of 25
100%
5 reviewers Download

Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes

Relevant disorders: Paediatric congenital malformation-dysmorphism-tumour syndrome, Paediatric congenital malformation-dysmorphism-tumour syndromes, Paediatric congenital malformation-dysmorphism-tumour sydromes, Paediatric congenital malformation-dysmorphism-tumour syndrome, R359
Version 2.17

Panel Types: GMS Rare Disease, GMS signed-off, Rare Disease 100K, GMS Cancer Germline Virtual,

Latest signed off version: v2.5 (4 Mar 2020)
109 of 116
94%

Regions: 1
14 reviewers Download

Ultra-rare undescribed monogenic disorders

Level 3: Undescribed disorders
Level 2: Ultra-rare disorders
Version 1.2

Panel Types: Rare Disease 100K,

0 of 0
0%
0 reviewers Download

Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders

Relevant disorders: Undiagnosed Metabolic Panel
Version 1.449

Panel Types: Rare Disease 100K,

440 of 753
58%

STRs: 1
Regions: 1
16 reviewers Download

Undiagnosed monogenic disorder seen in a specialist genetics clinic

Level 3: Multi-system groups
Level 2: Ultra-rare disorders
Version 1.0

0 of 0
0%
0 reviewers Download

Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders

Relevant disorders: Familial IgA nephropathy and IgA vasculitis, End-stage renal disease - childhood onset
Version 1.92

Panel Types: Rare Disease 100K,

89 of 173
51%

Regions: 3
11 reviewers Download

Unexplained paediatric onset end-stage renal disease


Relevant disorders: R257
Version 1.15

Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off,

Latest signed off version: v1.2 (4 Mar 2020)
234 of 234
100%

Regions: 3
20 reviewers Download

Upper gastrointestinal cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme

Relevant disorders: Hepatopancreatobiliary, Upper Gastrointestinal
Version 1.0

Panel Types: Cancer Germline 100K,

4 of 4
100%
2 reviewers Download

VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.29

Panel Types: Rare Disease 100K,

60 of 60
100%
8 reviewers Download

Vascular skin disorders


Relevant disorders: R326
Version 1.47

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.3 (15 Oct 2020)
37 of 37
100%
6 reviewers Download

Vici Syndrome and other autophagy disorders

Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders:
Version 1.2

Panel Types: Rare Disease 100K,

12 of 12
100%
4 reviewers Download

Viral resistance

Level 2: Viral research
Version 0.63

Panel Types: Research,

23 of 24
96%
4 reviewers Download

White matter disorders - adult onset


Relevant disorders: Adult onset leukodystrophy, R62
Version 1.8

Panel Types: GMS Rare Disease Virtual, GMS signed-off, GMS Rare Disease,

Latest signed off version: v1.6 (15 Oct 2020)
87 of 87
100%
6 reviewers Download

White matter disorders and cerebral calcification - narrow panel

Version 1.32

Panel Types: GMS signed-off, GMS Rare Disease, Component Of Super Panel,

Latest signed off version: v1.12 (2 Mar 2020)
59 of 221
27%
4 reviewers Download

White matter disorders - childhood onset


Relevant disorders: Childhood onset leukodystrophy, R109
Version 6.1257

Panel Types: GMS signed-off, GMS Rare Disease Virtual, Super Panel,

Latest signed off version: v6.20 (4 Mar 2020)
3699 of 4130
90%

STRs: 17
Regions: 59
52 reviewers Download

Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Cockayne and Xeroderma Pigmentosum-like disorders, Cockayne syndrome, Xeroderma Pigmentosum-like disorders, XP-like disorders, R227
Version 2.8

Panel Types: GMS Rare Disease Virtual, GMS signed-off, Rare Disease 100K, GMS Rare Disease,

Latest signed off version: v2.7 (15 Oct 2020)
17 of 17
100%
6 reviewers Download