Likely inborn error of metabolism - targeted testing not possible
Gene: EHBP1L1
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 2:05 p.m. | Last Modified: 14 Mar 2022, 2:05 p.m.
Panel Version: 2.229
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.
Tag Q4_21_rating was removed from gene: EHBP1L1.
Source Expert Review Green was added to EHBP1L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: EHBP1L1.
gene: EHBP1L1 was added gene: EHBP1L1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHBP1L1 were set to 34645488; 26833786; https://dmdd.org.uk/mutants/Ehbp1l1 Phenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369 Penetrance for gene: EHBP1L1 were set to unknown