Neonatal cholestasis

Gene: HADHA

Green List (high evidence)

HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 17 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in numerous cases. Three unrelated cases of LCHAD deficiency 609016 homozygous for the variant c.1528G>C, p,E510Q had cholestasis (PMID 9003853;10518281), a rare feature of this condition. Supportive functional studies were also provided (PMID 8770876).
Created: 14 Aug 2018, 3:37 p.m.
Comment on phenotypes: Variants also associated with Fatty liver, acute, of pregnancy 609016; HELLP syndrome, maternal, of pregnancy 609016; Trifunctional protein deficiency 609015.
Created: 14 Aug 2018, 3:34 p.m.

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

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

21 Aug 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: HADHA was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hadha has been classified as Green List (High Evidence).

14 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hadha has been classified as Green List (High Evidence).

14 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HADHA were set to 9003853; 10518281

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HADHA were set to LCHAD deficiency 609016

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HADHA was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HADHA was created by Ellen McDonagh