Genomics England
GMS Panels
Panels
Genes and Entities

CRYAA

crystallin alpha A
OMIM: 123580
PanelMode of inheritanceDetails
4 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital Cataract, Cataract 9, multiple types, 604219, CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1, CATARACT, NUCLEAR
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CATARACT, NUCLEAR 123580, CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1, CATARACT, NUCLEAR
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 9, multiple types, OMIM:604219, Anterior segment dysgenesis, MONDO:0019503, microphthalmia, MONDO:0021129