Retinal disorders
Gene: COL4A1
COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Richard Scott (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
611773
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Eye Disorders
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Intracerebral calcification disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Inherited white matter disorders
- Retinal disorders
- Cerebral vascular malformations
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Structural eye disease
- Hydrocephalus
- Fetal anomalies
- Cystic kidney disease
- Proteinuric renal disease
- Thoracic aortic aneurysm or dissection
- Haematuria
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Familial cerebral small vessel disease
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Early onset or syndromic epilepsy
- Congenital muscular dystrophy
- Anophthalmia or microphthalmia
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