Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 5 actions
23 Jul 2019	Adult onset neurodegenerative disorder v1.74	EARS2	Louise Daugherty reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
23 Jul 2019	Adult onset neurodegenerative disorder v1.72	EARS2	Nick Beauchamp reviewed gene: EARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Jul 2019	Adult onset neurodegenerative disorder v1.69	EARS2	Louise Daugherty Source NHS GMS was added to EARS2.
23 Jul 2019	Adult onset neurodegenerative disorder v1.67	EARS2	Louise Daugherty Source Yorkshire and North East GLH was added to EARS2.
18 Dec 2018	Adult onset neurodegenerative disorder v0.2	EARS2	Rebecca Foulger gene: EARS2 was added gene: EARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: EARS2 was set to Unknown Phenotypes for gene: EARS2 were set to Dystonia