Cytopenias and congenital anaemias
Gene: USB1Comment 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 panelCreated: 9 Mar 2017, 11:40 a.m.
Comment on list classification: Phenotype not relevant to this panelCreated: 9 Mar 2017, 11:40 a.m.
Mode of inheritance
Unknown
Phenotypes
Dyskeratosis congenita
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for USB1 were set to Poikiloderma with neutropenia 604173; Dyskeratosis congenita
USB1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list
USB1All sources for gene: USB1 were removed
USB1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
USB1 was created by LouiseD
USB1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list