Genes in panel

Hereditary neuropathy

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

6 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Appears to be related to a more complex phenotype
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: G2P (long chain 3-hydroxyacl-coa dehydrogenase deficiency)
Created: 4 May 2016, 11:34 a.m.
Comment on list classification: Conflicting reviews. Keep red.
Created: 4 May 2016, 11:33 a.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Trifunctional protein deficiency, causes a neuropathy as part of multisystem disease
Created: 2 Jun 2019, 6:09 p.m.
Not a CMT gene
Created: 9 Dec 2015, 8:50 a.m.

Mary Reilly (Institute of Neurology)

Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.

History Filter Activity

7 Dec 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to HADHA. Rating Changed from Red List (low evidence) to Green List (high evidence)

6 Jun 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to HADHA.

5 Jun 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HADHA.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to HADHA.

4 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

4 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HADHA was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list