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Arthrogryposis

Gene: COL4A1

Red List (low evidence)

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 30 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: No known association with arthrogryposis
Created: 4 Jan 2017, 3:20 p.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

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL4A1 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A1 was added to Arthrogryposispanel. Sources: Expert Review