Genomics England
GMS Panels
Panels
Genes and Entities

CRYAB

crystallin alpha B
OMIM: 123590
PanelMode of inheritanceDetails
4 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 16, multiple types, OMIM:613763, Myopathy, myofibrillar, 2, OMIM:608810
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CRYAB-related alpha-related B crystallinopathy, CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 6.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 2, OMIM:608810, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.40
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 2, OMIM:608810, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869