NBEAL2

neurobeachin like 2
OMIM: 614169, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NBEAL2 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gray platelet syndrome, MIM# 139090

Green NBEAL2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Gray platelet syndrome, MIM# 139090

Green NBEAL2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gray platelet syndrome, MIM# 139090

Green NBEAL2 in IBMDx study


Version 0.25

review Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Gray platelet syndrome, MIM# 139090

Green NBEAL2 in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Gray platelet syndrome, MIM# 139090