Description
TEST

1 reviewer

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

24 Entities

0 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
24 Entitiess
Green Green List (high evidence)
ACAN
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361
  • Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800
Tags
Red Red List (low evidence)
ANKRD11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • KBG
Tags
Red Red List (low evidence)
BLM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Bloom
Tags
Red Red List (low evidence)
CCDC8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • 3M
Tags
Red Red List (low evidence)
CDC6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • ?Meier-Gorlin syndrome 5, 613805
Tags
Red Red List (low evidence)
CDKN1C
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • NHS GMS
Phenotypes
  • SRS/BWS
  • Beckwith-Wiedemann syndrome, 130650
Tags
Red Red List (low evidence)
CDT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Meier-Gorlin
Tags
Red Red List (low evidence)
COL1A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
Phenotypes
  • OI
  • Osteogenesis imperfecta, type III, 259420
  • Osteogenesis imperfecta, type IV, 166220
  • Osteogenesis imperfecta, type II, 166210
  • Osteogenesis imperfecta, type I, 166200
Tags
Red Red List (low evidence)
CUL7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • 3M
Tags
Red Red List (low evidence)
HMGA2
1 review
1 green
Not set
Sources
  • NHS GMS
Phenotypes
  • SRS
Tags
Red Red List (low evidence)
HRAS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Costello
Tags
Red Red List (low evidence)
IGF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • IGF1
Tags
Red Red List (low evidence)
IGF1R
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • 15q-Del
Tags
Red Red List (low evidence)
IGF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • NHS GMS
Phenotypes
  • SRS
Tags
Red Red List (low evidence)
NBN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Nijmegen
Tags
Red Red List (low evidence)
OBSL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • 3M
Tags
Red Red List (low evidence)
ORC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Meier-Gorlin
Tags
Red Red List (low evidence)
ORC4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Meier-Gorlin
Tags
Red Red List (low evidence)
ORC6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Meier-Gorlin
Tags
Red Red List (low evidence)
PCNT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • MOPDII
Tags
Red Red List (low evidence)
PIK3R1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • SHORT
Tags
Red Red List (low evidence)
PLAG1
1 review
1 green
Not set
Sources
  • NHS GMS
Phenotypes
  • SRS
Tags
Red Red List (low evidence)
SRCAP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Floating Harbor
Tags
Red Red List (low evidence)
TRIM37
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mulibrey nanism
Tags

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