Congenital muscular dystrophy
Gene: DAG1"watchlist_moi" tag added to review this gene for MOI change with new evidence.Created: 3 Apr 2023, 1:34 p.m. | Last Modified: 3 Apr 2023, 1:48 p.m.
Panel Version: 4.7
Comment on inheritance: As there is only one unrelated case with monoallelic inheritance now, the MOI should be left as "BIALLELIC, autosomal or pseudoautosomal". The MOI will be changed to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" when there are more monoallelic cases reported.Created: 3 Apr 2023, 1:32 p.m. | Last Modified: 3 Apr 2023, 1:32 p.m.
Panel Version: 4.7
Publications
comment on inheritance: there is now at least 1 report of a dominant DAG1 pathogenic variants in a patient with hyperCKAamia indicating that also dominantly acting variants can be disease causingCreated: 24 Mar 2023, 1:15 p.m. | Last Modified: 24 Mar 2023, 1:15 p.m.
Panel Version: 4.1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
muscular dystrophy, secondary alpha-dystroglycanopathy; hyper-CKemia
Publications
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:25934851;24052401;22810924 (functional evidence);26380289 (review of mouse models)Created: 29 Apr 2019, 3:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital muscular dystrophies; congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538; Walker-Warburg syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Expert review green, two family reports for CMD with other cases for similar phenotypes and functional/mouse model evidence, and is confirmed DD gene for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7.Created: 6 Jan 2017, 9:23 a.m.
2 separate families with definitive CMD and other families with allied phenotypes. Good models to support pathogenicity.Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
Publications for gene: DAG1 were set to 26380289; 24052401; 25934851; 22810924
Tag watchlist_moi tag was added to gene: DAG1.
Source was removed from DAG1.
Phenotypes for gene: DAG1 were changed from congenital muscular dystrophies; congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
Publications for gene DAG1 were changed from 25934851; 24052401; 22810924 (functional evidence); 26380289 (review of mouse models) to 26380289; 24052401; 25934851; 22810924
Source NHS GMS was added to DAG1.
Source London South GLH was added to DAG1. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DAG1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for DAG1 were set to 25934851; 24052401;22810924 (functional evidence);26380289 (review of mouse models)
Publications for DAG1 were set to 25934851; 24052401
Publications for DAG1 were set to 25934851;
Phenotypes for DAG1 were set to congenital muscular dystrophies; congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538;Walker-Warburg syndrome
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for DAG1 were set to congenital muscular dystrophies; congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
DAG1 was added to Congenital muscular dystrophypanel. Source:
DAG1 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory