Congenital muscular dystrophy

Gene: DAG1

Green List (high evidence)

DAG1 (dystroglycan 1)
EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 15 panels

4 reviews

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.

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

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
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
OMIM
128239
Clinvar variants
Variants in DAG1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

6 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jan 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DAG1 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jan 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

6 Jan 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DAG1 were set to 25934851; 24052401

6 Jan 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DAG1 were set to 25934851;

6 Jan 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

6 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jan 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

19 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DAG1 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DAG1 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory