Genomics England
GMS Panels
Panels
Genes and Entities

EFEMP1

EGF containing fibulin extracellular matrix protein 1
OMIM: 601548
PanelMode of inheritanceDetails
1 panel
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Doyne honeycomb degeneration of retina, OMIM:126600