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Retinal disorders

Gene: COL4A1

Green List (high evidence)

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 27 panels

2 reviews

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

Green List (high evidence)

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
611773

Publications

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 COL4A1. Rating Changed from Green List (high evidence) to Green List (high evidence)

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

29 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL4A1 was created by ellenmcdonagh

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red