Cataract
Gene: COL4A2EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 14 panels
1 review
Ee Ming Wong (Victorian Clinical Genetics Services)
- PMID: 26708157: One family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities where p.Gly800Glu was identified in affected family members. The cataracts identified in this family was considered a phenotypic expansion associated with COL4A2 mutation.
- PMID: 24203695: Heterozygous mice carrying the COL4A2 p.(Gly646Asp) variant demonstrated cerebral, muscular and ocular phenotypes including cataract.
Sources: LiteratureCreated: 4 Sep 2023, 5:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cataract (MONDO:0005129), COL4A2-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Cataract (MONDO:0005129), COL4A2-related
- 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 Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ee Ming Wong (Victorian Clinical Genetics Services)gene: COL4A2 was added gene: COL4A2 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A2 were set to PMID: 26708157; 24203695 Phenotypes for gene: COL4A2 were set to Cataract (MONDO:0005129), COL4A2-related Review for gene: COL4A2 was set to AMBER gene: COL4A2 was marked as current diagnostic