Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: POMGNT1
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:25 a.m.
Comment on list classification: Also causes more severe muscle phenotypes but has been reported in several patients with LGMD phenotype.Created: 29 May 2016, 2:33 p.m.
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene POMGNT1 was changed to BIALLELIC, autosomal or pseudoautosomal
POMGNT1 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Model of inheritance for gene POMGNT1 was changed to BIALLELIC, autosomal or pseudoautosomal
POMGNT1 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
POMGNT1 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen