Genomics England

SACS

sacsin molecular chaperone

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 3.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550
Green in Albinism or congenital nystagmus R-numbers: R39 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.28	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.26	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Charlevoix-Saguenay spastic ataxia, 270550, Spastic ataxia, Charlevoix-Saguenay type
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), Spastic ataxia, Charlevoix-Saguenay type
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550