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  2. Likely inborn error of metabolism
  3. EHBP1L1
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Likely inborn error of metabolism

Gene: EHBP1L1

Green List (high 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)

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
Created: 19 Oct 2021, 10:08 a.m.
Last Modified: 19 Oct 2021, 10:08 a.m.
Copied from panel: Fetal hydrops v1.39

Dmitrijs Rots (Children's Clinical University Hospital)

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

Created: 16 Oct 2021, 12:54 p.m.

Copied from panel: Fetal hydrops v1.39

Details

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

History Filter Activity

7 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: EHBP1L1.

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating was removed from gene: EHBP1L1.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to EHBP1L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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