HEXB

hexosaminidase subunit beta
OMIM: 606873, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green HEXB in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.32 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green HEXB in Lysosomal storage disorder Level 2: Metabolic Version 3.11 Latest signed off version: v3.10 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green North London GLH Phenotypes Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800 Sandhoff disease MONDO:0010006
Green HEXB in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green HEXB in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green HEXB in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Literature Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green HEXB in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Red HEXB in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green HEXB in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GM2-GANGLIOSIDOSIS TYPE 2 268800
Green HEXB in Early onset or syndromic epilepsy Level 2: Neurology Version 9.73 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green HEXB in Intellectual disability Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green HEXB in Hereditary ataxia, adult onset Level 2: Neurology Version 9.10 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green HEXB in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.31 Latest signed off version: v8.30 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Red HEXB in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH
Green HEXB in Sandhoff disease Level 2: Metabolic Version 1.5 Latest signed off version: v1.4 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Sandhoff disease, MONDO:0010006