Genes in panel

STRs in panel

Prev Next

DMPK_CTG 2

Regions in panel

Prev Next

Congenital muscular dystrophy
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

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.

Created: 29 Apr 2019, 3:37 p.m.

Panel version: 1.43

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2019, 3:27 p.m.

Panel version: 1.24

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Expert review green and >3 cases/families reported. Confirmed DD gene for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3.
Created: 24 Jan 2017, 4:39 p.m.

Created: 24 Jan 2017, 4:39 p.m.

Panel version: 0.72

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

Created: 19 Dec 2016, 11:47 a.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
London South GLH
Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
UKGTN
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151

OMIM

606822

Clinvar variants

Variants in POMGNT1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 3

Removed Source

Arina Puzriakova (Genomics England Curator)

Source was removed from POMGNT1.

6 Feb 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POMGNT1 were changed from 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 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene POMGNT1 were changed from to 11709191; 12588800

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POMGNT1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to POMGNT1. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4