Congenital disorders of glycosylation
Gene: POMGNT1EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 19 panels
3 reviews
Rebecca Foulger (Genomics England curator)
GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q8WZA1-1Created: 9 Jan 2020, 2:46 p.m. | Last Modified: 9 Jan 2020, 2:46 p.m.
Panel Version: 2.0
Sarah Leigh (Genomics England Curator)
GlyGen link updated April 2021: https://www.glygen.org/protein/Q8WZA1-1#DiseaseCreated: 8 Apr 2021, 1:56 p.m. | Last Modified: 8 Apr 2021, 1:56 p.m.
Panel Version: 2.66
Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 11 variants reported in Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280, 3 in Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B 613151 and 2 in Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157Created: 19 Dec 2016, 11:22 a.m.
Daniel Ungar (University of York, Department of Biology)
dystroglycanopathyCreated: 12 Dec 2016, 2:33 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
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157
- Retinitis pigmentosa 76 617123
- Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- OMIM
- 606822
- Clinvar variants
- Variants in POMGNT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Retinal disorders
- DDG2P
- Fetal anomalies
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Cerebral vascular malformations
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
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).
Set publications
Sarah Leigh (Genomics England Curator)Publications for POMGNT1 were set to 27421908
Added New Source
Sarah Leigh (Genomics England Curator)POMGNT1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)POMGNT1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)POMGNT1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)POMGNT1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)POMGNT1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)POMGNT1 was created by sleigh