Hereditary neuropathy
Gene: HADHB
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 phenotypeCreated: 29 Apr 2019, 12:30 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Trifunctional protein deficiency, causes a neuropathy as part of multisystem diseaseCreated: 2 Jun 2019, 6:09 p.m.
Complex phenotype, trifunctional protein deficiencyCreated: 9 Dec 2015, 8:50 a.m.
Complex phenotype, trifunctional protein deficiencyCreated: 8 Dec 2015, 3:06 p.m.
Source Expert Review Green was added to HADHB. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source London North GLH was added to HADHB.
Mode of inheritance for gene: HADHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, 609015
Source NHS GMS was added to HADHB.
Source South West GLH was added to HADHB.
HADHB was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list