Cytopenias and congenital anaemias
Gene: USB1

USB1 (U6 snRNA biogenesis phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000103005
EnsemblGeneIds (GRCh37): ENSG00000103005
OMIM: 613276, Gene2Phenotype
USB1 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 4 variants reported in 3 unrelated cases. However, phenotype not relevant to this panel
Created: 9 Mar 2017, 11:40 a.m.

Comment on list classification: Phenotype not relevant to this panel
Created: 9 Mar 2017, 11:40 a.m.

Created: 9 Mar 2017, 11:34 a.m.

Panel version: 0.470

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Dyskeratosis congenita

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:47 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Sources

Expert Review Red
Expert list

Phenotypes

Poikiloderma with neutropenia 604173
Dyskeratosis congenita

OMIM

613276

Clinvar variants

Variants in USB1

Penetrance

Complete

Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Mar 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for USB1 were set to Poikiloderma with neutropenia 604173; Dyskeratosis congenita

22 Feb 2017, Gel status: 0