Genomics England

HEXB

hexosaminidase subunit beta

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	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 8.0	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 Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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 8.30	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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 3.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800, Sandhoff disease MONDO:0010006
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green in Sandhoff disease R-numbers: R285 Signed-off version 1.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800, Sandhoff disease, MONDO:0010006