Hereditary neuropathyGene: HADHA
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.
Appears to be related to a more complex phenotype
Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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.
Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.
Source Expert Review Green was added to HADHA. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source London North GLH was added to HADHA.
Phenotypes for gene: HADHA were changed from to Trifunctional protein deficiency, 609015
Source NHS GMS was added to HADHA.
Source South West GLH was added to HADHA.
Mode of inheritance for HADHA was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
HADHA was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list