Hereditary neuropathy or pain disorder

Gene: HADHB

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.

Panel Version: 6.148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: As reviewed by Alexander Rossor, mitochondrial trifunctional protein deficiency 2 (MIM #620300) includes peripheral neuropathy as one of the clinical manifestations. There are more than three unrelated cases reported with neuropathy in literature. Hence, this gene can be promoted to green rating in the next GMS update.

Created: 5 Nov 2024, 2:06 p.m. | Last Modified: 5 Nov 2024, 2:06 p.m.

Panel Version: 6.95

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial trifunctional protein deficiency 2, OMIM: 620300

Publications

• 24664533
• 28685493
• 28649548
• 35235001
• 37388542

I don't know

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 deficiency

Created: 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.

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)

PN well established part of phenotype. Multiple affected families. Now R78 includes complex phenotypes should be included

Created: 20 Oct 2024, 10:11 a.m. | Last Modified: 20 Oct 2024, 10:11 a.m.

Panel Version: 5.19

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.

Phenotypes
rhabdomyloysis; hypoparathyroidism; peripheral neuropathy

Publications

• 3744096: 28685493: 31521624: 24664533: 28649548: 35235001 : 37388542

Complex phenotype, trifunctional protein deficiency

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