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 1.13

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 1.84

review Unknown
Sources
  • Expert Review Amber
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
  • somatic

Amber NPM1 in Cytopenia - NOT Fanconi anaemia


Version 1.36
Latest signed off version: v1.29 (15 Oct 2020)

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

Amber NPM1 in DDG2P


Version 2.21
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

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