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Retinal disorders

Gene: EFEMP1

Green List (high evidence)

EFEMP1 (EGF containing fibulin extracellular matrix protein 1)
EnsemblGeneIds (GRCh38): ENSG00000115380
EnsemblGeneIds (GRCh37): ENSG00000115380
OMIM: 601548, Gene2Phenotype
EFEMP1 is in 4 panels

2 reviews

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

Green List (high evidence)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Inherited macular dystrophy (Doyne/dominant drusen)
OMIM
601548
Clinvar variants
Variants in EFEMP1
Penetrance
Complete
Panels with this gene

History Filter Activity

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

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene EFEMP1 were set to Macular Dystrophy/Degeneration/Stargardt Disease; Inherited macular dystrophy (Doyne/dominant drusen)

24 Mar 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

EFEMP1 was added to Posterior segment abnormalitiespanel. Sources: Eligibility statement prior genetic testing

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

EFEMP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EFEMP1 was created by ellenmcdonagh