Hereditary Neuropathy - complex
Gene: HEXAEnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene disease associated with >3 unrelated individuals with neuropathy as a clinical feature.
Mutations in HEXA gene cause juvenile gm2 gangliosidosis (jGM2) and Tay Sachs is a well established form of jGM2.
PMID: 17015493
One individual with variant in HEXA and diagnosis of Tay Sachs
PMID: 18642377
Multiple individuals diagnosed with late onset tay-Sachs and identified to have axonal polyneuropathy in 8 individuals.Created: 14 Aug 2023, 10:14 p.m. | Last Modified: 14 Aug 2023, 10:14 p.m.
Panel Version: 0.274
PMID: 3159334, 1838393: HEXA is associated with the clinical phenotype known as Tay-Sachs disease.
Evidence of sensory neuropathy was present in two unrelated individuals with tay Sachs disease however genetic testing wasn’t conducted to identify genetic pathogenesis.Created: 10 Aug 2023, 11:39 p.m. | Last Modified: 14 Aug 2023, 10:16 p.m.
Panel Version: 0.274
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease MIM#272800
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described
- Tay-Sachs disease
- OMIM
- 606869
- Clinvar variants
- Variants in HEXA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Motor Neurone Disease
- Macrocephaly_Megalencephaly
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hexa has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: HEXA were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HEXA was added gene: HEXA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease