Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: POMGNT2Comment 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
Known form to muscular dystrophy.according to new classification is LGMDR24Created: 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
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.
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
Given the clinical spectrum associated with this gene there is sufficient justification for including this gene in the LGMD panelCreated: 29 Mar 2019, 1:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
limb girdle muscular dystrophy
Publications
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 phenotypesCreated: 14 Jun 2016, 11:03 a.m.
Comment on list classification: Only a handful of cases, all much more severe/syndromic.Created: 29 May 2016, 7:39 p.m.
Gene: pomgnt2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: POMGNT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: pomgnt2 has been classified as Green List (High Evidence).
Source Yorkshire and North East GLH was added to POMGNT2.
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
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
Source NHS GMS was added to POMGNT2.
Source South West GLH was added to POMGNT2.
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Mode of inheritance for POMGNT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for POMGNT2 were set to 27066570
Phenotypes for POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for POMGNT2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
POMGNT2 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen