Hereditary neuropathy or pain disorder
Gene: HADHB
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype - mitochondrial trifunctional protein deficiencyCreated: 6 Dec 2019, 8:43 p.m. | Last Modified: 6 Dec 2019, 8:43 p.m.
Panel Version: 0.72
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 8:42 p.m. | Last Modified: 6 Dec 2019, 8:42 p.m.
Panel Version: 0.72
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.
Gene: hadhb has been classified as Amber List (Moderate Evidence).
gene: HADHB was added gene: HADHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,London North GLH,Expert list Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015