Neonatal cholestasis

Gene: EHHADH

Red List (low evidence)

EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000113790
EnsemblGeneIds (GRCh37): ENSG00000113790
OMIM: 607037, Gene2Phenotype
EHHADH is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Phenotype does not appear to have any hepatic involvement.
Created: 14 Aug 2018, 10:39 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • ?Fanconi renotubular syndrome 3 615605
OMIM
607037
Clinvar variants
Variants in EHHADH
Penetrance
None
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

14 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ehhadh has been classified as Red List (Low Evidence).

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: EHHADH were set to ?Fanconi renotubular syndrome 3 615605

14 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: EHHADH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EHHADH was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

EHHADH was created by Ellen McDonagh