Rhabdomyolysis and metabolic muscle disorders
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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.
Created: 5 Dec 2016, 10:52 a.m.

Comment on phenotypes: Also associated with Fatty liver, acute, of pregnancy 609016, HELLP syndrome, maternal, of pregnancy 609016,
LCHAD deficiency 609016
Created: 1 Dec 2016, 12:28 p.m.

Created: 1 Dec 2016, 12:28 p.m.

Panel version: 0.24

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
UKGTN

Phenotypes

Mitochondrial trifunctional protein deficiency, OMIM:609015

OMIM

600890

Clinvar variants

Variants in HADHA

Penetrance

Complete

Publications

25929793

Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HADHA were changed from Trifunctional protein deficiency 609015 to Mitochondrial trifunctional protein deficiency, OMIM:609015

4 Jan 2017, Gel status: 4