Description
Test description

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • BRIDGE consortium (NIHRBR-RD)

    Group: Other
    Workplace: Other

  • Olegg Gerasimenko (Genomics England)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Reviewer Test (GenomicsEnglandTesting)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

35 Entities

18 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green Green List (high evidence)
ACAD10
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • test
Tags
Green Green List (high evidence)
RNASEH2C
1 review
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Aicardi-Goutieres Syndrome
Tags
  • treatable
Green Green List (high evidence)
TBP_CAG
STR
1 review
1 green
Unknown
Sources
  • Expert Review
  • Expert Review Green
Tags
Amber Amber List (moderate evidence)
CCND1
0 reviews
Not set
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • cochlear-vestibular dysfunction
  • Deafness, autosomal dominant 9, 601369
Tags
Amber Amber List (moderate evidence)
PLPBP
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • test
Tags
Red Red List (low evidence)
ABCB10P1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Tags
Red Red List (low evidence)
ACACA
1 review
Unknown
Sources
  • Other
Tags
Red Red List (low evidence)
CD40
1 review
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
COCH
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • cochlear-vestibular dysfunction
  • Deafness, autosomal dominant 9, 601369
Tags
Red Red List (low evidence)
CREB3L3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • test2
Tags
Red Red List (low evidence)
DTNA
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Meniere disease
Tags
Red Red List (low evidence)
EML1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
Red Red List (low evidence)
FCHO1
0 reviews
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
FCHO2
0 reviews
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
G6PD
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Haemolytic anaemia
Tags
Red Red List (low evidence)
GJB3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 14 617899
Tags
  • discretionary
Red Red List (low evidence)
GJB6
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
None
ISCA-37390-Loss
Region
0 reviews
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
ISCA-37441-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • NHS GMS
Tags
Red Red List (low evidence)
KCNA1
0 reviews
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
KCNA4
0 reviews
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
MIR5004
1 review
Unknown
Sources
  • Other
Tags
Red Red List (low evidence)
NOS2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • hearing loss
Tags
Red Red List (low evidence)
NOS3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • hearing loss
Tags
Red Red List (low evidence)
PROSC
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • test 2
Tags
Red Red List (low evidence)
PTEN
0 reviews
x-linked over-dominance
Sources
  • Literature
Tags
Red Red List (low evidence)
RNASEH2B
1 review
1 green
Not set
Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • Aicardi-Goutieres Syndrome
Tags
Red Red List (low evidence)
TRPM7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
Tags
Red Red List (low evidence)
YARS
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert list
Phenotypes
  • test
Tags
  • new-gene-name
No list No list
ARSE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
Tags
No list No list
FMR1_CGG
STR
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
Tags
No list No list
FUK
0 reviews
x-linked over-dominance
Sources
Tags
No list No list
None
ISCA-37400-Loss
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
Tags
No list No list
PEX7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
Tags
No list No list
PRSS1
1 review
Other
Sources
  • Expert Review Removed
  • Other
Tags

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