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  3. NBEAL2
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IBMDx study

Gene: NBEAL2

Green List (high evidence)
NBEAL2 (neurobeachin like 2)
EnsemblGeneIds (GRCh38): ENSG00000160796
EnsemblGeneIds (GRCh37): ENSG00000160796
OMIM: 614169, Gene2Phenotype
NBEAL2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 15 Aug 2020, 8:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gray platelet syndrome, MIM# 139090

Publications

Created: 15 Aug 2020, 8:36 a.m.

Panel version: Imported from Bone Marrow Failure panel version Imported from Bleeding and Platelet Disorders panel version 0.128

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Gray platelet syndrome, MIM# 139090
OMIM
614169
Clinvar variants
Variants in NBEAL2
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NBEAL2 was added gene: NBEAL2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: NBEAL2 was set to Unknown Phenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090