Genomics England

sequestosome 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Green in Distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Dystal Myopathy with rimmed vacuoles, 617158
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145
Green in Sarcoma susceptibility Signed-off version 1.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Osteosarcoma, Paget disease of bone 3 167250