Muscular dystrophy and myopathy_Paediatric
Gene: POMT1
Well established gene-disease association.Created: 19 Apr 2022, 6:53 a.m. | Last Modified: 19 Apr 2022, 6:53 a.m.
Panel Version: 0.13073
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
>3 unrelated cases reported with muscular dystrophy
Sources: Expert ReviewCreated: 24 Feb 2020, 6:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 MIM#236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 MIM#613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 MIM#609308
Publications
gene: POMT1 was added gene: POMT1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMT1 was set to Unknown