Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: POGLUT1EnsemblGeneIds (GRCh38): ENSG00000163389
EnsemblGeneIds (GRCh37): ENSG00000163389
OMIM: 615618, Gene2Phenotype
POGLUT1 is in 4 panels
3 reviews
Bryony Thompson (Royal Melbourne Hospital)
15 patients from nine independent families with homozygous/compound heterozygous variants in POGLUT1. The affected individuals showed a clinical spectrum of the disease with highly variable age of onset and an overall phenotype of LGMD. A transgenic Drosophila model showed decreased myogenic activity.Created: 12 Apr 2023, 9:14 a.m. | Last Modified: 12 Apr 2023, 9:14 a.m.
Panel Version: 0.71
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0014977
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ain Roesley (Victorian Clinical Genetics Services)
well established for DDD but limited evidence for congenital disorders of glycosylation (CDG) and limb-girdle
PMID: 27807076
- 1x family with muscular dystrophy, limb-girdle and in vitro and in vivo showed reduced O-glucosyltransferase activity
PMID: 24387993
- 13 autosomal dominant Dowling-Degos disease patients but no biochemical studies doneCreated: 22 Jul 2020, 6:31 a.m. | Last Modified: 22 Jul 2020, 6:31 a.m.
Panel Version: 0.3444
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)
Publications
Crystle Lee (Victorian Clinical Genetics Services)
Single LGMD family reported to date with supporting functional studies.
PMID: 27807076: Reported one family with LGMD and onset in the third decade. Functional studies performed. Variant not present in gnomad.Created: 24 Jun 2020, 1:37 a.m. | Last Modified: 24 Jun 2020, 1:37 a.m.
Panel Version: 0.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232)
- OMIM
- 615618
- Clinvar variants
- Variants in POGLUT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: POGLUT1 were set to 27807076; 29034878
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: poglut1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: POGLUT1 were changed from Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: POGLUT1 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: POGLUT1 was added gene: POGLUT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy