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Genetic Epilepsy

Gene: HEXB

Green List (high evidence)

HEXB (hexosaminidase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease. Weakness begins in the first 6 months of life. Startle reaction, early blindness, progressive neurological deterioration, doll-like face, cherry red spots, and macrocephaly are the typical clinical features.

Later onset, milder disease presenting with neurological signs such as ataxia has also been described.
Created: 10 Apr 2021, 1:11 a.m. | Last Modified: 10 Apr 2021, 1:11 a.m.
Panel Version: 0.7103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; MONDO:0010006

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
  • MONDO:0010006
OMIM
606873
Clinvar variants
Variants in HEXB
Penetrance
None
Panels with this gene

History Filter Activity

22 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hexb has been classified as Green List (High Evidence).

22 Mar 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; MONDO:0010006

22 Mar 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HEXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HEXB was added gene: HEXB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HEXB was set to Unknown