Congenital muscular dystrophy and congenital myopathy

Gene: DAG1

"watchlist_moi" tag added to review this gene for MOI change with new evidence.

Created: 21 Dec 2023, 8:02 p.m. | Last Modified: 21 Dec 2023, 8:02 p.m.

Panel Version: 0.197

Comment on mode of 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: 21 Dec 2023, 8:01 p.m. | Last Modified: 21 Dec 2023, 8:01 p.m.

Panel Version: 0.197

Anna Sarkozy (Great Ormond Street Hospital) reviewing this gene on the old GMS Congenital muscular dystrophy panel on 24 Mar 2023 notes (rated Green): '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 causing'.

Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes: muscular dystrophy, secondary alpha-dystroglycanopathy; hyper-CKemia

Publications: 35082294

Created: 21 Dec 2023, 7:55 p.m. | Last Modified: 21 Dec 2023, 7:56 p.m.

Panel Version: 0.195

Publications

• 35082294

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.

Green List (high evidence)

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

• 25934851
• 24052401
• 22810924
• 26380289

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.

Green List (high evidence)

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