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Sandhoff disease
Gene: HEXB
HEXB (hexosaminidase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 14 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #268800) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 12:47 p.m. | Last Modified: 29 Dec 2025, 12:47 p.m.
Panel Version: 1.2
HEXB has been added to the panel for R285 Sandhoff disease with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:34 p.m. | Last Modified: 30 Jun 2023, 3:34 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
- Sandhoff disease, MONDO:0010006
- OMIM
- 606873
- Clinvar variants
- Variants in HEXB
- Penetrance
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Sandhoff disease
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800; Sandhoff disease, MONDO:0010006
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: HEXB was added gene: HEXB was added to Sandhoff disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal