Muscular dystrophy and myopathy_Paediatric

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
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
OMIM
128239
Clinvar variants
Variants in DAG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DAG1 were changed from to 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

5 Jun 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DAG1 were set to

5 Jun 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DAG1 was added gene: DAG1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DAG1 was set to Unknown