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  3. NBEAL2
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Bone Marrow Failure

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 Bleeding and Platelet Disorders panel version 0.128

Details

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

History Filter Activity

16 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nbeal2 has been classified as Green List (High Evidence).

16 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NBEAL2 were changed from to Gray platelet syndrome, MIM# 139090

16 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NBEAL2 were set to

16 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NBEAL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NBEAL2 was added gene: NBEAL2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NBEAL2 was set to Unknown