Genomics England

SACS

sacsin molecular chaperone

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	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 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 6.4	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 4.15	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 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Charlevoix-Saguenay spastic ataxia, 270550, Spastic ataxia, Charlevoix-Saguenay type
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hereditary Neuropathies
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 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 7.4	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 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550