Genomics England
GMS Panels
Panels
Genes and Entities

SREBF1

sterol regulatory element binding transcription factor 1
OMIM: 184756
PanelMode of inheritanceDetails
1 panel
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mucoepithelial dysplasia, hereditary, OMIM:158310, MONDO:0008017