CRYAB

crystallin alpha B
OMIM: 123590
PanelMode of inheritanceDetails
3 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 2, 608810, Posterior Polar Cataract
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.21
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar 2, 608810
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 16, multiple types, 613763, myofibrillar myopathy