Genes in panel

Inborn errors of metabolism

Gene: EHBP1L1

Amber List (moderate evidence)

EHBP1L1 (EH domain binding protein 1 like 1)
EnsemblGeneIds (GRCh38): ENSG00000173442
EnsemblGeneIds (GRCh37): ENSG00000173442
EHBP1L1 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

2 families with confirming mouse data
Sources: Literature
Created: 16 Oct 2021, 12:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non immune hydrops

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • non-immune hydrops fetalis MONDO:0009369
Tags
Q4_21_rating
Clinvar variants
Variants in EHBP1L1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

19 Oct 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: EHBP1L1.

19 Oct 2021, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

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