Pigmentary skin disorders

Gene: USB1

Green List (high evidence)

USB1 (U6 snRNA biogenesis phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000103005
EnsemblGeneIds (GRCh37): ENSG00000103005
OMIM: 613276, Gene2Phenotype
USB1 is in 7 panels

1 review

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: 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Poikiloderma with neutropenia
OMIM
613276
Clinvar variants
Variants in USB1
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to USB1.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

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