Genomics England
GMS Panels
Panels
Genes and Entities

EFEMP1

EGF containing fibulin extracellular matrix protein 1
OMIM: 601548
PanelMode of inheritanceDetails
3 panels
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type ID, OMIM:620780, cutis laxa, MONDO:0016175
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Doyne honeycomb degeneration of retina, OMIM:126600
Green
in Structural eye disease
R-numbers: R36
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glaucoma 1, open angle, H, OMIM:611276