Research panel - Severe Paediatric Disorders
Gene: POMGNT1

POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))
EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 19 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: POMGNT1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3) | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3) | Retinitis pigmentosa 76, 617123 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:24 p.m.
Last Modified: 20 Feb 2020, 5:24 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157
Retinitis pigmentosa 76, 617123

OMIM

606822

Clinvar variants

Variants in POMGNT1

Penetrance

None

Publications

30847515

Panels with this gene