Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability syndromic and non-syndromic v0.1076 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Intellectual disability syndromic and non-syndromic v0.1076 RECQL4 Zornitza Stark Gene: recql4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1076 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome, MIM#218600; RAPADILINO syndrome, MIM#266280; Rothmund-Thomson syndrome, type 2,MIM#268400
Intellectual disability syndromic and non-syndromic v0.1075 RECQL4 Zornitza Stark Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1074 RECQL4 Zornitza Stark Classified gene: RECQL4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1074 RECQL4 Zornitza Stark Gene: recql4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1073 RECQL4 Zornitza Stark reviewed gene: RECQL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baller-Gerold syndrome, MIM#218600, RAPADILINO syndrome, MIM#266280, Rothmund-Thomson syndrome, type 2,MIM#268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: RECQL4 was set to Unknown