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
-
- White matter disorders and cerebral calcification - narrow panel
- Thoracic aortic aneurysm or dissection (GMS)
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Hydrocephalus
- Cystic kidney disease
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Haematuria
- Arthrogryposis
- Fetal anomalies
- Familial cerebral small vessel disease
- Proteinuric renal disease
- Glaucoma (developmental)
- 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