Malformations of cortical development
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 17 panels
EnsemblGeneIds (GRCh38): ENSG00000144647
EnsemblGeneIds (GRCh37): ENSG00000144647
OMIM: 614828, Gene2Phenotype
POMGNT2 is in 17 panels
1 review
Alice Gardham (Genomics England)
3 families only. Recognised on G2P.Created: 19 Dec 2016, 2:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- 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 muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Intellectual disability
- Congenital disorders of glycosylation
- Cerebellar hypoplasia
- Malformations of cortical development
- Structural eye disease
- Likely inborn error of metabolism
- Retinal disorders
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
History Filter Activity
19 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
19 Dec 2016, Gel status: 3
Upload gene information
Alice Gardham (Genomics England)POMGNT2 was added to Malformations of cortical developmentpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
19 Dec 2016, Gel status: 2
Added New Source
Alice Gardham (Genomics England)POMGNT2 was added to Malformations of cortical developmentpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
19 Dec 2016, Gel status: 0
Created
Alice Gardham (Genomics England)POMGNT2 was created by agardham