Congenital muscular dystrophy

Gene: POGLUT1

Amber List (moderate evidence)

POGLUT1 (protein O-glucosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000163389
EnsemblGeneIds (GRCh37): ENSG00000163389
OMIM: 615618, Gene2Phenotype
POGLUT1 is in 4 panels

3 reviews

Ivone Leong (Genomics England Curator)

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

Louise Daugherty (Genomics England Curator)

I don't know

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.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London South GLH
Phenotypes
  • ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Tags
watchlist
OMIM
615618
Clinvar variants
Variants in POGLUT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2019, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: POGLUT1.

7 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: poglut1 has been classified as Amber List (Moderate Evidence).

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: POGLUT1 were set to

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: POGLUT1 were changed from to ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232

29 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: POGLUT1 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POGLUT1.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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