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Albinism or congenital nystagmus v0.14 SACS Ivone Leong Added phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR for gene: SACS
Rating Changed from Green List (high evidence) to Green List (high evidence)
Albinism or congenital nystagmus v0.12 SACS Ivone Leong Classified gene: SACS as Green List (high evidence)
Albinism or congenital nystagmus v0.12 SACS Ivone Leong Gene: sacs has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.5 SACS Ivone Leong reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type 270550 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.4 SACS Ivone Leong gene: SACS was added
gene: SACS was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type 270550 AR