Fetal hydrops
Gene: EHBP1L1
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least two variants reported in two unrelated families with non-immune hydrops fetalis (NIHF) resulting in recurrent fetal loss. Two Ehbp1l1−/− mouse models shared phenotypic features with the affected patients, including early death, abnormal intestinal microvilli, subcutaneous edema, perimembraneous ventricular septic defect, and thin myocardium (PMID 26833786, https://dmdd.org.uk/mutants/Ehbp1l1).Created: 19 Oct 2021, 10:20 a.m. | Last Modified: 19 Oct 2021, 10:20 a.m.
Panel Version: 1.38
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 19 Oct 2021, 10:08 a.m. | Last Modified: 19 Oct 2021, 10:08 a.m.
Panel Version: 1.36
2 families with confirming mouse data
Sources: LiteratureCreated: 16 Oct 2021, 12:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non immune hydrops
Publications
Tag gene-checked tag was added to gene: EHBP1L1.
Publications for gene: EHBP1L1 were set to 34645488
Publications for gene: EHBP1L1 were set to PMID: 34645488
Phenotypes for gene: EHBP1L1 were changed from Non immune hydrops to non-immune hydrops fetalis MONDO:0009369
Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
gene: EHBP1L1 was added gene: EHBP1L1 was added to Fetal hydrops. Sources: Literature Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHBP1L1 were set to PMID: 34645488 Phenotypes for gene: EHBP1L1 were set to Non immune hydrops Penetrance for gene: EHBP1L1 were set to unknown Review for gene: EHBP1L1 was set to GREEN