NPM1

nucleophosmin 1
OMIM: 164040, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red NPM1 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

review Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • radial ray defects
  • short stature
  • nail dsytrophy
  • bone marrow failure
Amber NPM1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

review Unknown
Sources
  • Expert Review Amber
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
  • somatic
Amber NPM1 in Cytopenia - NOT Fanconi anaemia


Level 2: Haematology
Version 4.32
Latest signed off version: v4.0 (30 Apr 2025)

review Unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • radial ray defects
  • short stature
  • nail dsytrophy
  • bone marrow failure
Green NPM1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Dyskeratosis Congenita