Congenital muscular dystrophy

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.

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

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.

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

History Filter Activity

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene COL4A2 were changed from 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy to 22037604

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL4A2.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to COL4A2.

27 Jan 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Jan 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A2 were set to 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy

25 Jan 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A2 were set to 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy

19 Dec 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Dec 2016, Gel status: 0

Created

Emma Clement (Great Ormond Street Hospital)

COL4A2 was created by eclement

19 Dec 2016, Gel status: 0

Added New Source

Emma Clement (Great Ormond Street Hospital)

COL4A2 was added to Congenital muscular dystrophypanel. Sources: Expert Review