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  2. Congenital Disorders of Glycosylation
  3. POFUT1
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Congenital Disorders of Glycosylation

Gene: POFUT1

Amber List (moderate evidence)
POFUT1 (protein O-fucosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000101346
EnsemblGeneIds (GRCh37): ENSG00000101346
OMIM: 607491, Gene2Phenotype
POFUT1 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 23684010;
- 2 probands both with LoF variants.
- No biochem studies, only POFUT1 knockout zebrafish model

PMID: 29452367
- 1 proband
- extracts from fibroblasts demonstrated reduced POFUT1 activity, which was determined based on amount of incorporated fucose/glucose into EGF repeats

PMID: 25157627;
- 10 affecteds from 3 families
- no biochemical studies done
Created: 22 Jul 2020, 1:56 a.m. | Last Modified: 22 Jul 2020, 1:56 a.m.
Panel Version: 0.96

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dowling-Degos disease 2 (MIM# 615327)

Publications

Created: 22 Jul 2020, 1:56 a.m.
Last Modified: 22 Jul 2020, 1:56 a.m.
Panel version: 0.96

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Dowling-Degos disease 2 (MIM# 615327)
OMIM
607491
Clinvar variants
Variants in POFUT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)

17 Jan 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POFUT1 were set to

22 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: pofut1 has been classified as Amber List (Moderate Evidence).

22 Jul 2020, Gel status: 2

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: pofut1 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: POFUT1 was added gene: POFUT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POFUT1 was set to Unknown