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  3. COL4A2
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Fetal anomalies

Gene: COL4A2

Green List (high evidence)
COL4A2 (collagen type IV alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Porencephaly is a typical feature. Well established gene-disease association.
Created: 20 Nov 2021, 4:25 a.m. | Last Modified: 20 Nov 2021, 4:25 a.m.
Panel Version: 0.578

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain small vessel disease 2, MIM# 614483

Publications

Created: 20 Nov 2021, 4:25 a.m.
Last Modified: 20 Nov 2021, 4:25 a.m.
Panel version: 0.578

Chloe Stutterd (Victorian Clinical Genetics Services)

I don't know

Two unrelated individuals reported with PMG.
Third unrelated family identified in MCRI study not yet published
Sources: Literature
Created: 9 Sep 2020, 5:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
614483

Publications

Created: 9 Sep 2020, 5:46 a.m.

Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.142

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Brain small vessel disease 2, MIM# 614483
  • Porencephaly
OMIM
120090
Clinvar variants
Variants in COL4A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col4a2 has been classified as Green List (High Evidence).

20 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL4A2 were changed from PORENCEPHALY 2 to Brain small vessel disease 2, MIM# 614483; Porencephaly

20 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL4A2 were set to 32732225

20 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL4A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL4A2 was added gene: COL4A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A2 were set to 32732225 Phenotypes for gene: COL4A2 were set to PORENCEPHALY 2