Congenital muscular dystrophy
Gene: COL4A2
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.
PMID:22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathyCreated: 29 Apr 2019, 3:27 p.m.
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
no reports but forms heterotrimer with COL4A1- will check with GuysCreated: 19 Dec 2016, 12:02 p.m.
no reports but forms heterotrimer with COL4A1- will check with GuysCreated: 19 Dec 2016, noon
Mode of inheritance for gene: COL4A2 was changed from to Unknown
Publications for gene COL4A2 were changed from 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy to 22037604
Source NHS GMS was added to COL4A2.
Source London South GLH was added to COL4A2.
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for COL4A2 were set to 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy
Publications for COL4A2 were set to 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy
This proposed gene was validated and added to this panel
COL4A2 was created by eclement
COL4A2 was added to Congenital muscular dystrophypanel. Sources: Expert Review