Leukodystrophy - adult onset
Gene: COL4A2EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cannot find specific reports linking variants in this gene with leukodystrophy (unlike the association between COL4A1 and leukodystrophy). Brain abnormalities described typically include porencephaly, schizencephaly, polymicrogyria, pachygyria, and subcortical and subependymal nodular heterotopia.Created: 27 Apr 2020, 5:15 a.m. | Last Modified: 27 Apr 2020, 5:15 a.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brain small vessel disease 2, MIM# 614483
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Brain small vessel disease 2, 614483
- OMIM
- 120090
- Clinvar variants
- Variants in COL4A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mendeliome
- Brain Calcification
- Cataract
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Cerebral vascular malformations
- Genetic Epilepsy
- Cerebral Palsy
- Muscular dystrophy and myopathy_Paediatric
- Stroke
- Leukodystrophy - adult onset
- Haematuria_Alport
- Early-onset Dementia
- Fetal anomalies
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col4a2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col4a2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COL4A2 was added gene: COL4A2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A2 were set to 30413629; 27624120; 24390199 Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2, 614483