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  2. Vascular Malformations_Germline
  3. EPHB4
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Vascular Malformations_Germline

Gene: EPHB4

Green List (high evidence)
EPHB4 (EPH receptor B4)
EnsemblGeneIds (GRCh38): ENSG00000196411
EnsemblGeneIds (GRCh37): ENSG00000196411
OMIM: 600011, Gene2Phenotype
EPHB4 is in 8 panels

1 review

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

Variants in this gene are known to have variable expressivity (PMIDs: 29905864, 27400125, 30578106).
Created: 9 Oct 2020, 4:29 a.m. | Last Modified: 9 Oct 2020, 4:29 a.m.
Panel Version: 0.111

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD; Lymphatic malformation 7 (MIM#617300), AD

Publications

Created: 9 Oct 2020, 4:29 a.m.
Last Modified: 9 Oct 2020, 4:29 a.m.
Panel version: 0.111

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, MIM#618196
OMIM
600011
Clinvar variants
Variants in EPHB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ephb4 has been classified as Green List (High Evidence).

9 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EPHB4 were set to

9 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EPHB4 was added gene: EPHB4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, MIM#618196