Pigmentary skin disordersGene: USB1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
POIKILODERMA WITH NEUTROPENIA; PN
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: USB1; 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 PN; POIKILODERMA WITH NEUTROPENIA for gene: USB1 Publications for gene USB1 were changed from to 20004881
Source London North GLH was added to USB1.
gene: USB1 was added gene: USB1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia