Pigmentary skin disorders

Gene: POFUT1

Green List (high evidence)

POFUT1 (protein O-fucosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000101346
EnsemblGeneIds (GRCh37): ENSG00000101346
OMIM: 607491, Gene2Phenotype
POFUT1 is in 1 panel

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
DOWLING-DEGOS DISEASE 2; DDD2

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: POFUT1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • DOWLING-DEGOS DISEASE 2
  • DDD2
  • Dowling-Degos disease
OMIM
607491
Clinvar variants
Variants in POFUT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes DDD2; DOWLING-DEGOS DISEASE 2 for gene: POFUT1 Publications for gene POFUT1 were changed from to 23684010

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to POFUT1.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: POFUT1 was added gene: POFUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POFUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POFUT1 were set to Dowling-Degos disease