Fetal hydrops
Gene: EPHB4Comment 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
Three unrelated families reported, hydrops fetalis is a key feature of this condition.
Sources: Expert listCreated: 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
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
Phenotypes for gene: EPHB4 were changed from Lymphatic malformation 7, MIM#617300 to Lymphatic malformation 7, OMIM:617300
Gene: ephb4 has been classified as Green List (High Evidence).
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