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DMPK_CTG 2

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Congenital muscular dystrophy
Gene: DAG1

DAG1 (dystroglycan 1)
EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 14 panels

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

"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

35082294

Created: 3 Apr 2023, 1:32 p.m.
Last Modified: 3 Apr 2023, 1:48 p.m.
Panel version: 4.7

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

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
Created: 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

35082294

Created: 24 Mar 2023, 1:15 p.m.
Last Modified: 24 Mar 2023, 1:15 p.m.
Panel version: 4.1

Louise Daugherty (Genomics England Curator)

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.

Created: 29 Apr 2019, 3:37 p.m.

Panel version: 1.43

Rachael Mein (Viapath at Guy's Hospital)

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2019, 3:27 p.m.

Panel version: 1.24

Ellen McDonagh (Genomics England Curator)

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.

Created: 6 Jan 2017, 9:10 a.m.

Panel version: 0.32

Emma Clement (Great Ormond Street Hospital)

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

Created: 19 Dec 2016, 11:47 a.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
London South GLH
Expert Review Green
Emory Genetics Laboratory

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818

Tags

watchlist_moi

OMIM

128239

Clinvar variants

Variants in DAG1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

21 Dec 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: DAG1 were set to 26380289; 24052401; 25934851; 22810924

3 Apr 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist_moi tag was added to gene: DAG1.

6 Feb 2023, Gel status: 3

Removed Source

Arina Puzriakova (Genomics England Curator)

Source was removed from DAG1.

3 Feb 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene DAG1 were changed from 25934851; 24052401; 22810924 (functional evidence); 26380289 (review of mouse models) to 26380289; 24052401; 25934851; 22810924

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DAG1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to DAG1. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4