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Congenital Disorders of Glycosylation
Gene: POGLUT1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Limited evidence for bi-allelic disease or for CDG association.
Created: 22 Jul 2020, 6:29 a.m. | Last Modified: 22 Jul 2020, 6:29 a.m.

Panel Version: 0.126

Created: 22 Jul 2020, 6:29 a.m.
Last Modified: 22 Jul 2020, 6:29 a.m.
Panel version: 0.126

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

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, 3:59 a.m. | Last Modified: 22 Jul 2020, 3:59 a.m.

Panel Version: 0.96

Mode of inheritance
Other

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)

Publications

Created: 22 Jul 2020, 3:59 a.m.
Last Modified: 22 Jul 2020, 3:59 a.m.
Panel version: 0.96

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)

OMIM

Clinvar variants

Variants in POGLUT1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jul 2020, Gel status: 1

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: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POGLUT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

22 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POGLUT1 were set to

22 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POGLUT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jul 2020, Gel status: 2

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

22 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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