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Sandhoff disease

Gene: HEXB

Green List (high evidence)

HEXB (hexosaminidase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 15 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

History Filter Activity

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