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  3. EMC1
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Retinal disorders

Gene: EMC1

Red List (low evidence)
EMC1 (ER membrane protein complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000127463
EnsemblGeneIds (GRCh37): ENSG00000127463
OMIM: 616846, Gene2Phenotype
EMC1 is in 4 panels

3 reviews

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

Red List (low evidence)

only one report
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
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, 8:06 a.m.
Created: 2 Jun 2016, 8:06 a.m.

Panel version: 0.201

Simon Ramsden (NHS)

Red List (low evidence)

Single published family - Autozygome-guided exome sequencing in Saudi patients. Insufficient evidence to be included in the panel.
Created: 1 Jun 2016, 10:06 a.m.

Mode of inheritance
Unknown

Publications

Created: 1 Jun 2016, 10:06 a.m.

Panel version: 0.169

Details

Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • No OMIM disease ID
OMIM
616846
Clinvar variants
Variants in EMC1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to EMC1.

1 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EMC1 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

EMC1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green