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 9 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
POIKILODERMA WITH NEUTROPENIA; PN

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: 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
Phenotypes
  • Poikiloderma with neutropenia
  • PN
  • POIKILODERMA WITH NEUTROPENIA
OMIM
613276
Clinvar variants
Variants in USB1
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 PN; POIKILODERMA WITH NEUTROPENIA for gene: USB1 Publications for gene USB1 were changed from to 20004881

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