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  2. Hereditary Haemorrhagic Telangiectasia
  3. EPHB4
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Hereditary Haemorrhagic Telangiectasia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Capillary malformations, included due to phenotypic overlap.
Created: 21 Jan 2021, 10:51 a.m. | Last Modified: 21 Jan 2021, 10:51 a.m.
Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Capillary malformation-arteriovenous malformation 2, MIM# 618196

Created: 21 Jan 2021, 10:51 a.m.
Last Modified: 21 Jan 2021, 10:51 a.m.
Panel version: 0.12

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
Panels with this gene

History Filter Activity

21 Jan 2021, 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).

21 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation-2 to Capillary malformation-arteriovenous malformation-2, MIM# 618196

21 Jan 2021, 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

18 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 Hereditary Haemorrhagic Telangiectasia_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