1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. COL4A2
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Congenital muscular dystrophy and congenital myopathy

Gene: COL4A2

Red List (low evidence)
COL4A2 (collagen type IV alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 11 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.
Created: 29 Apr 2019, 3:37 p.m.

Copied from panel: Congenital muscular dystrophy v3.33

Rachael Mein (Viapath at Guy's Hospital)

Red List (low evidence)

PMID:22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy
Created: 29 Apr 2019, 3:27 p.m.

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2019, 3:27 p.m.

Copied from panel: Congenital muscular dystrophy v3.33

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Keep red for now - seems to be associated with porencephaly, but no evidence found for association with muscular dystrophy in literature or database search.
Created: 25 Jan 2017, 11:15 a.m.
Created: 25 Jan 2017, 11:15 a.m.

Copied from panel: Congenital muscular dystrophy v3.33

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

no reports but forms heterotrimer with COL4A1- will check with Guys
Created: 19 Dec 2016, 12:02 p.m.
no reports but forms heterotrimer with COL4A1- will check with Guys
Created: 19 Dec 2016, noon
Created: 19 Dec 2016, 12:02 p.m.

Copied from panel: Congenital muscular dystrophy v3.33

History Filter Activity

3 Feb 2023, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: COL4A2 was added gene: COL4A2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Red,Expert Review,London South GLH Mode of inheritance for gene: COL4A2 was set to Unknown Publications for gene: COL4A2 were set to 22037604 Penetrance for gene: COL4A2 were set to Complete