Hyperammonaemia
Gene: HADHAEnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 18 panels
3 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial trifunctional protein subunit A / LCHAD deficiency
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least seven variants reported as compoud heterozygotes and homozygotesCreated: 18 Aug 2016, 11:08 a.m.
Comment on phenotypes: Also associated with Fatty liver, acute, of pregnancy 609016, HELLP syndrome, maternal, of pregnancy 609016, LCHAD deficiency 609016Created: 18 Aug 2016, 11 a.m.
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Trifunctional protein deficiency 609015
- OMIM
- 600890
- Clinvar variants
- Variants in HADHA
- Penetrance
- Complete
- Panels with this gene
-
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Hyperammonaemia
- Fetal hydrops
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)HADHA was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for HADHA were set to Trifunctional protein deficiency 609015
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for HADHA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)HADHA was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory