Genomics England
GMS Panels
Panels
Genes and Entities

USB1

U6 snRNA biogenesis phosphodiesterase 1
OMIM: 613276
PanelMode of inheritanceDetails
4 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poikiloderma with neutropenia, 604173, 604173 Poikiloderma with neutropenia, Dyskeratosis congenita
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poikiloderma with neutropenia
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poikiloderma with neutropenia, PN, POIKILODERMA WITH NEUTROPENIA
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poikiloderma with neutropenia, 604173, Clericuzio-type poikiloderma with neutropenia syndrome, Retinopathy, developmental delay, facial dysmorphisms, poikiloderma, Congenital defects of phagocyte number or function