Congenital muscular dystrophy
Gene: POMGNT2
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.
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
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.
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
Source was removed from POMGNT2.
Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830
Publications for gene POMGNT2 were changed from to 22958903; 27066570
Source NHS GMS was added to POMGNT2.
Source London South GLH was added to POMGNT2. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for POMGNT2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type;Walker-Warburg syndrome
POMGNT2 was added to Congenital muscular dystrophypanel. Source:
POMGNT2 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
POMGNT2 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen