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Mendeliome

Gene: POGLUT1

Green List (high evidence)

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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 done
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)
OMIM
615618
Clinvar variants
Variants in POGLUT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POGLUT1 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)

22 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POGLUT1 were set to

22 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POGLUT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POGLUT1 was added gene: POGLUT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POGLUT1 was set to Unknown