Muscular dystrophy and myopathy_Paediatric
Gene: POMT2
Well established gene-disease association.Created: 19 Apr 2022, 6:50 a.m. | Last Modified: 19 Apr 2022, 6:50 a.m.
Panel Version: 0.13071
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
>3 unrelated cases with muscular dystrophy, paediatric onset
Sources: Expert ReviewCreated: 24 Feb 2020, 6:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 MIM#613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 MIM#613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM#613158
Publications
gene: POMT2 was added gene: POMT2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMT2 was set to Unknown