Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: DAG1
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
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
Gene: dag1 has been classified as Green List (High Evidence).
Publications for gene: DAG1 were set to
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