Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Ataxia - paediatric v0.240 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Ataxia - paediatric v0.240 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.240 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2 to Perrault syndrome 2, MIM# 614926
Ataxia - paediatric v0.239 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Ataxia - paediatric v0.238 HARS2 Zornitza Stark Classified gene: HARS2 as Red List (low evidence)
Ataxia - paediatric v0.238 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.237 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.0 HARS2 Bryony Thompson gene: HARS2 was added
gene: HARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to Perrault syndrome 2