Genomics England

SACS

sacsin molecular chaperone

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Albinism or congenital nystagmus R-numbers: R39 Signed-off version 4.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR
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 Spastic ataxia, Charlevoix-Saguenay type
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550
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 Charlevoix-Saguenay spastic ataxia, 270550, Spastic ataxia, Charlevoix-Saguenay type
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hereditary Neuropathies
Green in Hereditary spastic paraplegia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550
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 Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	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 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550