Inherited bleeding disorders

Gene: NBEAL2

Green List (high evidence)

NBEAL2 (neurobeachin like 2)
EnsemblGeneIds (GRCh38): ENSG00000160796
EnsemblGeneIds (GRCh37): ENSG00000160796
OMIM: 614169, Gene2Phenotype
NBEAL2 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gray platelet syndrome

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gray platelet syndrome

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Gray platelet syndrome
OMIM
614169
Clinvar variants
Variants in NBEAL2
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

NBEAL2 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NBEAL2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NBEAL2 was created by ellenmcdonagh