Congenital muscular dystrophy

Gene: POMGNT2

Green List (high evidence)

POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-))
EnsemblGeneIds (GRCh38): ENSG00000144647
EnsemblGeneIds (GRCh37): ENSG00000144647
OMIM: 614828, Gene2Phenotype
POMGNT2 is in 18 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.

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; Walker-Warburg syndrome

Publications

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review, and further curation. It is a confirmed DD gene for Walker-Warburg syndrome, and 3 reports in OMIM.
Created: 19 Dec 2016, 1:14 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type

Details

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene POMGNT2 were changed from to 22958903; 27066570

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POMGNT2.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to POMGNT2. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for POMGNT2 was changed to BIALLELIC, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Dec 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type;Walker-Warburg syndrome

19 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

POMGNT2 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

POMGNT2 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POMGNT2 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen