Congenital muscular dystrophy

Gene: COL4A1

Amber List (moderate evidence)

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 27 panels

5 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)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
walker warburg syndrome, muscle eye brain disease

Publications

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

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Although convincing functional evidence that this could be a CMD gene, it is not enough to make it green (only one report to date)
Created: 25 Jan 2017, 4:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Walker Warburg Syndrome

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Keep as amber for now due to borderline evidence - see reviewer comments.
Created: 27 Jan 2017, 1:42 p.m.
Comment on list classification: Promoted to amber due to comments from reviewer - seems to be borderline evidence. 2 patients out of 27 with CMD were found to have be heterozygous for a rare missense variant in COL4A1 at a conserved residue; one of these variants, Q1316E, resulted in impaired COL4A1 secretion in transfected HT1080 Human fibrosarcoma cells.
Created: 25 Jan 2017, 11:08 a.m.

Emma Clement (Great Ormond Street Hospital)

2 patients reported, good mouse model, likely CMD gene (Labelle-Dumais, PLOS 2011) will check with Guys re more cases
Created: 19 Dec 2016, 12:02 p.m.
2 patients reported, good mouse model, likely CMD gene (Labelle-Dumais, PLOS 2011) will check with Guys re more cases
Created: 19 Dec 2016, noon

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
walker warburg syndrome, muscle eye brain disease

History Filter Activity

14 Oct 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: COL4A1 were changed from walker warburg syndrome, muscle eye brain disease to walker warburg syndrome, muscle eye brain disease; Brain small vessel disease with or without ocular anomalies, 175780

29 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL4A1.

29 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to COL4A1.

27 Jan 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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

27 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Jan 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A1 were set to 28056338;22037604;21625620

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

Added New Source

Emma Clement (Great Ormond Street Hospital)

COL4A1 was added to Congenital muscular dystrophypanel. Sources: Expert Review

19 Dec 2016, Gel status: 0

Created

Emma Clement (Great Ormond Street Hospital)

COL4A1 was created by eclement