Limb girdle 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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber based on the review and comments from Chiara Marini Bettolo (NUTH), however only one variant has been reported to date.
Created: 28 Nov 2019, 4:29 p.m. | Last Modified: 28 Nov 2019, 4:34 p.m.
Panel Version: 1.127

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

new gene added after analysis. Currently provided by HSS for LGMDin Ncl via LGMD panel. Known form of LGMD2Z or LGMDR21
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Sources: Expert list
Created: 10 May 2019, 2:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Limb-girdle muscular dystrophy

Publications

Details

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

History Filter Activity

28 Nov 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: POGLUT1 were set to 27807076

28 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: poglut1 has been classified as Green List (High Evidence).

21 Oct 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POGLUT1.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to POGLUT1.

13 May 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: poglut1 has been classified as Red List (Low Evidence).

10 May 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chiara Marini Bettolo (NUTH)

gene: POGLUT1 was added gene: POGLUT1 was added to Limb girdle muscular dystrophy. Sources: Expert list Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POGLUT1 were set to 27807076 Phenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy Review for gene: POGLUT1 was set to GREEN