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  3. EPHB2
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Bleeding and Platelet Disorders

Gene: EPHB2

Amber List (moderate evidence)
EPHB2 (EPH receptor B2)
EnsemblGeneIds (GRCh38): ENSG00000133216
EnsemblGeneIds (GRCh37): ENSG00000133216
OMIM: 600997, Gene2Phenotype
EPHB2 is in 4 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

ClinGen's Hemostasis Thrombosis VCEP downgraded their classification to LIMITED on 04/09/2024 due to the lack of further genetic evidence. Only one consanguineous family reported. - https://search.clinicalgenome.org/CCID:008367
Created: 6 Sep 2024, 1:36 a.m. | Last Modified: 6 Sep 2024, 1:36 a.m.
Panel Version: 1.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
bleeding disorder, platelet-type, 22 MONDO:0032765

Publications

Created: 6 Sep 2024, 1:36 a.m.
Last Modified: 6 Sep 2024, 1:36 a.m.
Panel version: 1.52

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family and a mouse model.
Sources: Expert list
Created: 12 Aug 2020, 3:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bleeding disorder, platelet-type, 22, MIM# 618462

Publications

Created: 12 Aug 2020, 3:32 a.m.

Panel version: 0.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Bleeding disorder, platelet-type, 22, MIM# 618462
OMIM
600997
Clinvar variants
Variants in EPHB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ephb2 has been classified as Amber List (Moderate Evidence).

12 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ephb2 has been classified as Amber List (Moderate Evidence).

12 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ephb2 has been classified as Amber List (Moderate Evidence).

12 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EPHB2 was added gene: EPHB2 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: EPHB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPHB2 were set to 30213874; 25370417 Phenotypes for gene: EPHB2 were set to Bleeding disorder, platelet-type, 22, MIM# 618462 Review for gene: EPHB2 was set to AMBER