Cerebral Palsy
Gene: COL4A2EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 14 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional 2 individuals reproted with mono-allelic P/LP variants (1 frameshift insertion, 1 splice and 1 stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 27 May 2024, 4:53 a.m. | Last Modified: 27 May 2024, 4:53 a.m.
Panel Version: 1.193
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Brain small vessel disease 2 MIM# 614483
Publications
- PMID: 38693247
Danielle Ariti (University of Melbourne)
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.
Sources: Expert listCreated: 21 Sep 2021, 12:01 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cerebral Palsy; Brain small vessel disease 2 MIM# 614483
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebral Palsy
- Brain small vessel disease 2 MIM# 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 Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col4a2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)gene: COL4A2 was added gene: COL4A2 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: COL4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL4A2 were set to 33528536; 33912663 Phenotypes for gene: COL4A2 were set to Cerebral Palsy; Brain small vessel disease 2 MIM# 614483 Review for gene: COL4A2 was set to GREEN