Intracerebral calcification disorders
Gene: COL4A1EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green. It is a green gene on the Familial cerebral small vessel disease gene panel (version 1.0) and Intellectual disability gene panel (version 1.14). It is a both developmental disorder and incidental non-developmental disorder DD gene for Porencephaly 1, which can include calcification. More than 3 family reports for Porencephaly 1.Created: 29 Nov 2016, 12:41 p.m.
Yanick Crow (University of Manchester)
Important cause of dominant neurological disease with variable expression sometimes associated with the presence of intracerebral calcification which can serve as an important diagnostic clue.Created: 11 Feb 2016, 7:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Variable - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Porencephaly 1
- Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
- OMIM
- 120130
- Clinvar variants
- Variants in COL4A1
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL4A1 were set to Porencephaly 1;Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
Set publications
Ellen McDonagh (Genomics England Curator)Publications for COL4A1 were set to 22134833
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COL4A1 was added to Intracerebral calcification disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)COL4A1 was created by ellenmcdonagh