Hereditary neuropathy NOT PMP22 copy numberGene: HEXA
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: Neuronopathy and peripheral neuropathy have been described in Tay-Sachs 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 HEXA should be promoted to Green at the next GMS panel update.
Created: 13 Dec 2021, 3:04 p.m. | Last Modified: 13 Dec 2021, 3:04 p.m.
Panel Version: 1.70
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, 1:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q4_21_rating was removed from gene: HEXA.
Source Expert Review Green was added to HEXA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: HEXA were set to PMID: 28739864; 18642377
Tag Q4_21_rating tag was added to gene: HEXA.
Gene: hexa has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: HEXA were changed from to Tay-Sachs disease, OMIM:272800; Late-onset Tay-Sachs disease
gene: HEXA was added gene: HEXA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to PMID: 28739864; 18642377 Penetrance for gene: HEXA were set to Complete Review for gene: HEXA was set to GREEN