Pigmentary skin disordersGene: POGLUT1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DOWLING-DEGOS DISEASE 4; DDD4
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: POGLUT1; 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 DDD4; DOWLING-DEGOS DISEASE 4 for gene: POGLUT1 Publications for gene POGLUT1 were changed from to 24387993
Source London North GLH was added to POGLUT1.
gene: POGLUT1 was added gene: POGLUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POGLUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POGLUT1 were set to Dowling-Degos disease