Retinal disorders
Gene: EFEMP1

EFEMP1 (EGF containing fibulin extracellular matrix protein 1)
EnsemblGeneIds (GRCh38): ENSG00000115380
EnsemblGeneIds (GRCh37): ENSG00000115380
OMIM: 601548, Gene2Phenotype
EFEMP1 is in 5 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has now been associated with phenotype in OMIM (MIM #126600) and in Gene2Phenotype.
Created: 7 Mar 2023, 6:09 p.m. | Last Modified: 7 Mar 2023, 6:09 p.m.

Panel Version: 3.34

Created: 7 Mar 2023, 6:09 p.m.
Last Modified: 7 Mar 2023, 6:09 p.m.
Panel version: 3.34

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.

Created: 2 Jun 2016, 8:04 a.m.

Panel version: 0.201

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Eligibility statement prior genetic testing
Expert Review Green

Phenotypes

Doyne honeycomb degeneration of retina, OMIM:126600

OMIM

601548

Clinvar variants

Variants in EFEMP1

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Mar 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: EFEMP1 were changed from Macular Dystrophy/Degeneration/Stargardt Disease; Inherited macular dystrophy (Doyne/dominant drusen) to Doyne honeycomb degeneration of retina, OMIM:126600

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to EFEMP1. Rating Changed from Green List (high evidence) to Green List (high evidence)

24 Mar 2016, Gel status: 4