Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: POMGNT2

POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-))
EnsemblGeneIds (GRCh38): ENSG00000144647
EnsemblGeneIds (GRCh37): ENSG00000144647
OMIM: 614828, Gene2Phenotype
POMGNT2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, range of severity reported.
Created: 24 Apr 2022, 7:54 a.m. | Last Modified: 24 Apr 2022, 7:54 a.m.

Panel Version: 0.13227

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

Publications

Created: 24 Apr 2022, 7:54 a.m.
Last Modified: 24 Apr 2022, 7:54 a.m.
Panel version: Imported from Mendeliome panel version 0.13227

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Royal Melbourne Hospital
Victorian Clinical Genetics Services

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830

OMIM

614828

Clinvar variants

Variants in POMGNT2

Penetrance

None

Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: POMGNT2 was added gene: POMGNT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830

Limb-Girdle Muscular Dystrophy and Distal Myopathy Gene: POMGNT2