Genomics England
GMS Panels
Panels
Genes and Entities

CABP4

calcium binding protein 4
OMIM: 608965
PanelMode of inheritanceDetails
1 panel
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Cone-rod synaptic disorder, congenital nonprogressive, Congenital Stationary Night Blindness, Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427