USB1

U6 snRNA biogenesis phosphodiesterase 1
OMIM: 613276
PanelMode of inheritanceDetails
4 panels
R-numbers: R91
Signed-off version 1.29
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poikiloderma with neutropenia
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poikiloderma with neutropenia, PN, POIKILODERMA WITH NEUTROPENIA
R-numbers: R15
Signed-off version 2.1
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