1. Panels
  2. Polymicrogyria and Schizencephaly
  3. COL4A2
STRs in panel
Prev Next
Regions in panel
Prev Next

Polymicrogyria and Schizencephaly

Gene: COL4A2

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

1 review

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: 0.142

History Filter Activity

9 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col4a2 has been classified as Amber List (Moderate Evidence).

9 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col4a2 has been classified as Amber List (Moderate Evidence).

9 Sep 2020, Gel status: 0

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

Chloe Stutterd (Victorian Clinical Genetics Services)

gene: COL4A2 was added gene: COL4A2 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A2 were set to 30315939 Phenotypes for gene: COL4A2 were set to 614483 Review for gene: COL4A2 was set to AMBER