Genomics England
GMS Panels
Panels
Genes and Entities

RCBTB1

RCC1 and BTB domain containing protein 1
OMIM: 607867
PanelMode of inheritanceDetails
1 panel
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Familial exudative vitreoretinopathy, Coats disease, Retinal dystrophy with or without extraocular anomalies, OMIM:617175