Muscular dystrophy and myopathy_Paediatric
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
EnsemblGeneIds (GRCh38): ENSG00000144647
EnsemblGeneIds (GRCh37): ENSG00000144647
OMIM: 614828, Gene2Phenotype
POMGNT2 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 614828
- Clinvar variants
- Variants in POMGNT2
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Cerebellar and Pontocerebellar Hypoplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Congenital Disorders of Glycosylation
- Cobblestone Malformations
- Fetal anomalies
- Prepair 1000+
- Arthrogryposis
- Mendeliome
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: POMGNT2 was added gene: POMGNT2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMGNT2 was set to Unknown