Genomics England
GMS Panels
Panels
Genes and Entities

NOP10

NOP10 ribonucleoprotein
OMIM: 606471
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NOP10-related dyskeratosis congenita, OMIM:224230
Green
in Haematological malignancies cancer susceptibility
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Oral and GI squamous cell carcinoma
Green
in Pulmonary fibrosis familial
R-numbers: R421
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 1, OMIM:224230