NPM1

Red NPM1 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

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 1.118

Sources

• Expert Review Amber
• BRIDGE consortium (NIHRBR-RD)

Phenotypes

• Acute myeloid leukaemia (AML)

Tags

• somatic

Amber NPM1 in Cytopenia - NOT Fanconi anaemia

Version 3.33
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• Expert list

Phenotypes

• radial ray defects
• short stature
• nail dsytrophy
• bone marrow failure

Green NPM1 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• Dyskeratosis Congenita