Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Intellectual disability syndromic and non-syndromic v0.5932 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Intellectual disability syndromic and non-syndromic v0.5932 SLX4 Zornitza Stark Gene: slx4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5932 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anaemia, complementation group P, MIM# 613951
Intellectual disability syndromic and non-syndromic v0.5931 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Intellectual disability syndromic and non-syndromic v0.5930 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5929 SLX4 Zornitza Stark Classified gene: SLX4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5929 SLX4 Zornitza Stark Gene: slx4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5928 SLX4 Zornitza Stark reviewed gene: SLX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group P, MIM# 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5881 SLX4 Lovepreet Gill reviewed gene: SLX4: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 21240277, 21240275, 23093618, 26453996); Phenotypes: Franconia anemia, complementation group P; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SLX4 was set to Unknown