Muscular dystrophy and myopathy_Paediatric
Gene: COL4A2EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 14 panels
2 reviews
Ain Roesley (Victorian Clinical Genetics Services)
For CP:
7 individuals in CP cohort have been reported with mono-allelic COL4A2 variants. Phenotypic overlap: Spastic Triplegia, ID (no language), porencephaly and seizures.
2 siblings reported with bi-allelic variants; Spastic Cerebral Palsy with ID and Epilepsy.
For brain small vessel disease:
Well established gene-disease associationCreated: 4 May 2022, 12:06 a.m. | Last Modified: 4 May 2022, 12:06 a.m.
Panel Version: 0.13664
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483
Publications
Variants in this GENE are reported as part of current diagnostic practice
Elena Savva (Victorian Clinical Genetics Services)
OMIM reports - Variable severity - Incomplete penetrance
PMID: 25719457 - 0/15 heterozygous carriers report any myopathy phenotype. Majority had porencephaly or periventricular leukoencephalopathy.
PMID: 30315939 - two patients with schizencephaly and/or polymicrogyria. Authors specifically noted myopathy was not observed in any patient, one was reported to have normal CK levels.
Both LOF and dominant negative are suggested mechanisms for this gene.
Sources: Expert listCreated: 22 Jun 2020, 5:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brain small vessel disease 2 614483
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review Red
- Expert list
- Phenotypes
-
- Brain small vessel disease 2 614483
- OMIM
- 120090
- Clinvar variants
- Variants in COL4A2
- Penetrance
- Incomplete
- Publications
- Mode of Pathogenicity
- Other
- 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, Set penetrance, Set mode of pathogenicity
Elena Savva (Victorian Clinical Genetics Services)gene: COL4A2 was added gene: COL4A2 was added to Muscular dystrophy. Sources: Expert list Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A2 were set to PMID: 25719457; 30315939 Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2 614483 Penetrance for gene: COL4A2 were set to Incomplete Mode of pathogenicity for gene: COL4A2 was set to Other Review for gene: COL4A2 was set to RED