Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 4 actions
07 Aug 2019	Possible mitochondrial disorder - nuclear genes v1.2	SACS	Louise Daugherty Added comment: Comment on mode of inheritance: changed BiALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal - pipeline is case sensitive
07 Aug 2019	Possible mitochondrial disorder - nuclear genes v1.2	SACS	Louise Daugherty Mode of inheritance for gene: SACS was changed from BiALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
04 Feb 2019	Possible mitochondrial disorder - nuclear genes v0.5	SACS	Ivone Leong reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550; Mode of inheritance: BiALLELIC, autosomal or pseudoautosomal
04 Feb 2019	Possible mitochondrial disorder - nuclear genes v0.3	SACS	Ivone Leong gene: SACS was added gene: SACS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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