Hereditary Neuropathy - complex
Gene: HEXB
HEXB (hexosaminidase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 16 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Distal sensory neuropathy typically presents in late onset sandhoff disease
PMID: 17251047
Two siblings affected with Sandhoff (presented with sensory axonal neuropathy phenotype). c.1556A>G (D494G) variant was identified.
PMID: 14722612
In vivo mice study using FcRy disrupted in Hexb–/– mice that showed the importance in the pathogenesis of neuropathy in Sandhoff disease.Created: 2 Aug 2023, 4:10 a.m. | Last Modified: 2 Aug 2023, 4:10 a.m.
Panel Version: 0.205
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms (MIM#268800)
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
- 606873
- Clinvar variants
- Variants in HEXB
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Motor Neurone Disease
- Macrocephaly_Megalencephaly
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
13 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HEXB was added gene: HEXB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXB 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