Hereditary neuropathy or pain disorder
Gene: HEXAEnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
Arina Puzriakova (Genomics England Curator)
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
Evan Reid (University of Cambridge)
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.
Sources: LiteratureCreated: 30 Nov 2021, 1:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Tay-Sachs disease, OMIM:272800
- Late-onset Tay-Sachs disease
- OMIM
- 606869
- Clinvar variants
- Variants in HEXA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Tay-Sachs disease
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating was removed from gene: HEXA.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to HEXA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: HEXA were set to PMID: 28739864; 18642377
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating tag was added to gene: HEXA.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: hexa has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HEXA were changed from to Tay-Sachs disease, OMIM:272800; Late-onset Tay-Sachs disease
Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance
Evan Reid (University of Cambridge)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