NBEAL2

neurobeachin like 2
OMIM: 614169, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NBEAL2 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.164

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Gray platelet syndrome

Green NBEAL2 in Bleeding and platelet disorders


Version 1.31
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 139090, Gray platelet syndrome
  • 139090 Gray platelet syndrome

Amber NBEAL2 in Cytopenia - NOT Fanconi anaemia


Version 1.43
Latest signed off version: v1.29 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert review Amber
  • North West GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
  • NHS GMS
  • London South GLH
Phenotypes
  • Gray platelet syndrome, 139090

Green NBEAL2 in Severe Paediatric Disorders


Version 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Gray platelet syndrome, 139090