Hereditary neuropathy or pain disorder

Gene: HEXB

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

Created: 14 Mar 2022, 1:08 p.m. | Last Modified: 14 Mar 2022, 1:08 p.m.

Panel Version: 1.88

Comment on list classification: Neuropathy has been described in Sandhoff disease, particularly in adult-onset cases where this can be an initial finding and other symptoms may be more mild. Sufficient unrelated cases of neuropathy due to variants in this gene have been reported in literature (>3). Overall HEXB should be promoted to Green at the next GMS panel update.

Created: 13 Dec 2021, 3:26 p.m. | Last Modified: 13 Dec 2021, 3:26 p.m.

Panel Version: 1.73

Green List (high evidence)

In addition to the comments of Evan Reid, neuropathy in pediatric cases are also reported.

Created: 30 Nov 2021, 9:09 p.m. | Last Modified: 30 Nov 2021, 9:09 p.m.

Panel Version: 1.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sandhoff disease; neuropathy; ataxia

Publications

• PMID: 20472204

Green List (high evidence)

Both HEXA and HEXB autosomal recessive mutations can be associated with a late onset motor neuropathy, sometimes quite mild and sometimes resembling ALS. We missed diagnosis of a patient with a late onset motor neuropathy as HEXB is not on the neuropathy panel. I would suggest that HEXA and HEXB should both be included on this panel.

Created: 30 Nov 2021, 1:51 p.m. | Last Modified: 30 Nov 2021, 1:51 p.m.

Panel Version: 1.67

Phenotypes
ALS; motor neuronopathy

Publications

• PMID: 31512525
• 20798201
• 2795083