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  3. EPHB4
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Fetal hydrops

Gene: EPHB4

Green List (high evidence)
EPHB4 (EPH receptor B4)
EnsemblGeneIds (GRCh38): ENSG00000196411
EnsemblGeneIds (GRCh37): ENSG00000196411
OMIM: 600011, Gene2Phenotype
EPHB4 is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Sufficient evidence to support hydrops fetalis association as part of MIM:617300, with 3 variants listed in OMIM from 3 families, each with multiple affected individuals (PMIDs: 27400125 and 29905864). Already Green on Fetal anomalies GMS panel.
Created: 26 Jul 2023, 10:18 a.m. | Last Modified: 26 Jul 2023, 10:18 a.m.
Panel Version: 1.59
Created: 26 Jul 2023, 10:18 a.m.
Last Modified: 26 Jul 2023, 10:18 a.m.
Panel version: 1.59

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported, hydrops fetalis is a key feature of this condition.
Sources: Expert list
Created: 30 Dec 2019, 5:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Lymphatic malformation 7, MIM#617300

Publications

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

Created: 30 Dec 2019, 5:36 a.m.

Panel version: 1.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Lymphatic malformation 7, OMIM:617300
OMIM
600011
Clinvar variants
Variants in EPHB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jul 2023, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Jul 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EPHB4 were changed from Lymphatic malformation 7, MIM#617300 to Lymphatic malformation 7, OMIM:617300

26 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

30 Dec 2019, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EPHB4 was added gene: EPHB4 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: EPHB4 were set to 2990564; 27400125 Phenotypes for gene: EPHB4 were set to Lymphatic malformation 7, MIM#617300 Review for gene: EPHB4 was set to GREEN gene: EPHB4 was marked as current diagnostic