Hereditary neuropathy

Gene: HADHB

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.

Red List (low evidence)

Appears to be related to a more complex phenotype

Created: 29 Apr 2019, 12:30 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Green List (high evidence)

Trifunctional protein deficiency, causes a neuropathy as part of multisystem disease

Created: 2 Jun 2019, 6:09 p.m.

Complex phenotype, trifunctional protein deficiency

Created: 9 Dec 2015, 8:50 a.m.

Complex phenotype, trifunctional protein deficiency

Created: 8 Dec 2015, 3:06 p.m.