Arthrogryposis
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
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 4 Jan 2017, 3:20 p.m.
Emma Clement (Great Ormond Street Hospital)
2 patients reported, good mouse model, likely CMD gene (Labelle-Dumais, PLOS 2011) will check with Guys re more casesCreated: 19 Dec 2016, 12:02 p.m.
2 patients reported, good mouse model, likely CMD gene (Labelle-Dumais, PLOS 2011) will check with Guys re more casesCreated: 19 Dec 2016, noon
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
walker warburg syndrome, muscle eye brain disease
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert Review
- Phenotypes
-
- walker warburg syndrome, muscle eye brain disease
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Intracerebral calcification disorders
- Cerebral vascular malformations
- Cystic kidney disease
- Malformations of cortical development
- Inherited white matter disorders
- Neurodegenerative disorders, adult onset
- DDG2P
- Haematuria
- Proteinuric renal disease
- Leukodystrophy, adult onset
- Intellectual disability
- Thoracic aortic aneurysm or dissection (GMS)
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Hydrocephalus
- Thoracic aortic aneurysm or dissection
- Retinal disorders
- Familial cerebral small vessel disease
- Glaucoma (developmental)
- Congenital muscular dystrophy
- Arthrogryposis
- Early onset or syndromic epilepsy
- White matter disorders and cerebral calcification - childhood onset
- Fetal anomalies
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
4 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)COL4A1 was created by ellenmcdonagh
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A1 was added to Arthrogryposispanel. Sources: Expert Review