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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: DAG1

Green List (high evidence)
DAG1 (dystroglycan 1)
EnsemblGeneIds (GRCh38): ENSG00000173402
EnsemblGeneIds (GRCh37): ENSG00000173402
OMIM: 128239, Gene2Phenotype
DAG1 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spectrum of severity, ranging from muscle disease only through to brain malformations.
Created: 28 Nov 2021, 6:47 a.m. | Last Modified: 28 Nov 2021, 6:47 a.m.
Panel Version: 0.9915

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia

Publications

Created: 28 Nov 2021, 6:47 a.m.
Last Modified: 28 Nov 2021, 6:47 a.m.
Panel version: Imported from Mendeliome panel version 0.9915

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Walker-Warburg syndrome and tectocerebellar dysgraphia - Multiple patients from a single large family (PMID: 29337005, not in OMIM).

Missense transfected into K/O cells were unable to rescue post-translational modification defects (PMID: 25503980)
Created: 17 Apr 2020, 4:28 a.m. | Last Modified: 17 Apr 2020, 4:28 a.m.
Panel Version: 0.2301

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia

Publications

Created: 17 Apr 2020, 4:28 a.m.
Last Modified: 17 Apr 2020, 4:28 a.m.
Panel version: Imported from Mendeliome panel version 0.2301

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
OMIM
128239
Clinvar variants
Variants in DAG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dag1 has been classified as Green List (High Evidence).

17 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DAG1 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DAG1 was added gene: DAG1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818