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Cytopenias and congenital anaemias

Gene: USB1

Red List (low evidence)

USB1 (U6 snRNA biogenesis phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000103005
EnsemblGeneIds (GRCh37): ENSG00000103005
OMIM: 613276, Gene2Phenotype
USB1 is in 9 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.

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

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

Upload gene information

Louise Daugherty (Genomics England Curator)

USB1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list

22 Feb 2017, Gel status: 1

clearsources

Louise Daugherty (Genomics England Curator)

USB1All sources for gene: USB1 were removed

22 Feb 2017, Gel status: 1

Upload gene information

Louise Daugherty (Genomics England Curator)

USB1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

USB1 was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

USB1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list