Limb girdle 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 16 panels

7 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 4:28 p.m. | Last Modified: 28 Nov 2019, 4:28 p.m.
Panel Version: 1.125
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Created: 28 Nov 2019, 4:27 p.m. | Last Modified: 28 Nov 2019, 4:27 p.m.
Panel Version: 1.124

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

Known form to muscular dystrophy.according to new classification is LGMDR24
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Limb-girdle muscular dystrophy

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 11:45 a.m.

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

Need more papers. PMID:27066570 - Novel variants in POMGNT2 associated with milder forms of LGMD. In 3 unrelated Japanese patients with MDDGC8, identified homozygous or compound heterozygous missense mutations at highly conserved residues in the putative glycosyltransferase domain. Segregation studies in the families were not performed.
Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830

Publications

Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

Green List (high evidence)

Given the clinical spectrum associated with this gene there is sufficient justification for including this gene in the LGMD panel
Created: 29 Mar 2019, 1:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
limb girdle muscular dystrophy

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: No evidence from the four sources or OMIM for association of this gene with Limb girdle muscular dystrophy. Two variants identified in three patients with patients with the milder limb-girdle muscular dystrophy (PMID: 27066570).
Emma Clement comments: Insufficient evidence at the moment, however, based on the behaviour of the other genes in this pathway you would expect this gene to produce CMD and LGMD phenotypes
Created: 14 Jun 2016, 11:03 a.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Only a handful of cases, all much more severe/syndromic.
Created: 29 May 2016, 7:39 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
  • limb girdle muscular dystrophy
OMIM
614828
Clinvar variants
Variants in POMGNT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pomgnt2 has been classified as Green List (High Evidence).

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pomgnt2 has been classified as Green List (High Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to POMGNT2.

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; limb girdle muscular dystrophy

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POMGNT2.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to POMGNT2.

27 Jul 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

14 Jun 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

14 Jun 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POMGNT2 were set to 27066570

14 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Jun 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

29 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POMGNT2 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen