Neonatal cholestasis
Gene: HADHA
HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 18 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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- LCHAD deficiency 609016
- OMIM
- 600890
- Clinvar variants
- Variants in HADHA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Likely inborn error of metabolism
- Hyperammonaemia
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy or pain disorder
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Neonatal cholestasis
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Acute rhabdomyolysis
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