Hereditary neuropathy NOT PMP22 copy numberGene: 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
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
Sandhoff disease; neuropathy; ataxia
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
ALS; motor neuronopathy
Tag Q4_21_rating was removed from gene: HEXB.
Source Expert Review Green was added to HEXB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: HEXB.
Publications for gene: HEXB were set to 17015493; 20472204; 20798201; 2795083; 31512525; 34856081
Publications for gene: HEXB were set to PMID: 31512525
Gene: hexb has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
gene: HEXB was added gene: HEXB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to PMID: 31512525 Penetrance for gene: HEXB were set to Complete