Genomics England

HEXB

hexosaminidase subunit beta

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 6.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GM2-GANGLIOSIDOSIS TYPE 2 268800
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800, Sandhoff disease MONDO:0010006
Green in Sandhoff disease R-numbers: R285 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes