Pigmentary skin disordersGene: POFUT1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DOWLING-DEGOS DISEASE 2; DDD2
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.
Added phenotypes DDD2; DOWLING-DEGOS DISEASE 2 for gene: POFUT1 Publications for gene POFUT1 were changed from to 23684010
Source London North GLH was added to POFUT1.
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