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Arthrogryposis

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

1 review

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

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.

21 Dec 2016, 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

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A2 was added to Arthrogryposispanel. Sources: Expert Review

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL4A2 was created by ellenmcdonagh