Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Intellectual disability syndromic and non-syndromic v0.6642 PDSS2 Ain Roesley Phenotypes for gene: PDSS2 were changed from Coenzyme Q10 deficiency, primary, 3 MIM#614652 to Coenzyme Q10 deficiency, primary, 3 MIM#614652
Intellectual disability syndromic and non-syndromic v0.6641 PDSS2 Ain Roesley Marked gene: PDSS2 as ready
Intellectual disability syndromic and non-syndromic v0.6641 PDSS2 Ain Roesley Gene: pdss2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6641 PDSS2 Ain Roesley Phenotypes for gene: PDSS2 were changed from Coenzyme Q10 deficiency, primary, 3 MIM#614652 to Coenzyme Q10 deficiency, primary, 3 MIM#614652
Intellectual disability syndromic and non-syndromic v0.6640 PDSS2 Ain Roesley Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3 MIM#614652
Intellectual disability syndromic and non-syndromic v0.6640 PDSS2 Ain Roesley Publications for gene: PDSS2 were set to
Intellectual disability syndromic and non-syndromic v0.6639 PDSS2 Ain Roesley Mode of inheritance for gene: PDSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6639 PDSS2 Ain Roesley Classified gene: PDSS2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.6639 PDSS2 Ain Roesley Gene: pdss2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.6638 PDSS2 Ain Roesley reviewed gene: PDSS2: Rating: RED; Mode of pathogenicity: None; Publications: 28125198, 29032433, 25349199, 17186472, 21723727, 10972372; Phenotypes: Coenzyme Q10 deficiency, primary, 3 MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.0 PDSS2 Zornitza Stark gene: PDSS2 was added
gene: PDSS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDSS2 was set to Unknown