Congenital muscular dystrophyGene: POGLUT1
Comment on list classification: Promoted from red to amber. POGLUT1 may be associated with LGMD on OMIM but not associated with any phenotype in Gene2Phenotype. PMID: 27807076 reported on a family (Spanish descent) of 4 affected siblings with recessive limb-girdle muscular dystrophy 21 born from consanguineous parents. All affected siblings were homozygous for a missense variant in POGLUT1. The same study also reported on a Drosophila model where the variant affected muscle development. There is currently not enough evidence to support a gene-disease assocation (only 1 reported case and 1 animal model), therefore POGLUT1 has been given amber gene rating until further evidence is available where the gene status can be re-evaluated.
However, this gene may be more appropriate in the LGMD panel (code: 185) instead of this one.
Created: 7 Aug 2019, 9:06 a.m. | Last Modified: 7 Aug 2019, 9:45 a.m.
Panel Version: 1.55
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
?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Tag watchlist tag was added to gene: POGLUT1.
Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Publications for gene: POGLUT1 were set to
Phenotypes for gene: POGLUT1 were changed from to ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Mode of inheritance for gene: POGLUT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to POGLUT1.
gene: POGLUT1 was added gene: POGLUT1 was added to Congenital muscular dystrophy. Sources: London South GLH Mode of inheritance for gene: POGLUT1 was set to