Congenital disorders of glycosylation
Gene: POMGNT2EnsemblGeneIds (GRCh38): ENSG00000144647
EnsemblGeneIds (GRCh37): ENSG00000144647
OMIM: 614828, Gene2Phenotype
POMGNT2 is in 17 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 3 variants reported in 3 unrelated cases.Created: 19 Dec 2016, 4:37 p.m.
Daniel Ungar (University of York, Department of Biology)
dystroglycanopathyCreated: 12 Dec 2016, 4:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
- OMIM
- 614828
- Clinvar variants
- Variants in POMGNT2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Hydrocephalus
- Retinal disorders
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Congenital muscular dystrophy
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)POMGNT2 was added to Congenital disorders of glycosylationpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
Added New Source
Daniel Ungar (University of York, Department of Biology)POMGNT2 was added to Congenital disorders of glycosylationpanel. Sources: Literature
Created
Daniel Ungar (University of York, Department of Biology)POMGNT2 was created by ungardani