Muscular dystrophy and myopathy_Paediatric
Gene: POMGNT1
PMID 26908613 and 27391550: 4 unrelated families with isolated RP in adults.
Well established association with dystroglycanopathy.Created: 24 Apr 2022, 8 a.m. | Last Modified: 24 Apr 2022, 8 a.m.
Panel Version: 0.13230
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135; Retinitis pigmentosa 76 617123
Publications
>3 unrelated cases with congenital muscular dystrophy
Sources: Expert ReviewCreated: 24 Feb 2020, 11:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM#253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157
Publications
gene: POMGNT1 was added gene: POMGNT1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMGNT1 was set to Unknown