Rhabdomyolysis and metabolic muscle disorders

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 19 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.

History Filter Activity

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for HADHA were set to Trifunctional protein deficiency 609015

1 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

HADHA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene HADHA was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene HADHA were set to Trifunctional protein deficiency 609015

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

HADHA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HADHA was created by sleigh