Muscular dystrophy and myopathy_Paediatric

Gene: POMGNT1

Green List (high evidence)

POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))
EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 20 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated cases with congenital muscular dystrophy
Sources: Expert Review
Created: 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

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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