Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Intellectual disability syndromic and non-syndromic v0.4909 LNPK Zornitza Stark Publications for gene: LNPK were set to 30032983
Intellectual disability syndromic and non-syndromic v0.4906 LNPK Chirag Patel Classified gene: LNPK as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4906 LNPK Chirag Patel Gene: lnpk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4905 LNPK Chirag Patel reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Marked gene: LNPK as ready
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2076 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Intellectual disability syndromic and non-syndromic v0.2075 LNPK Zornitza Stark Publications for gene: LNPK were set to
Intellectual disability syndromic and non-syndromic v0.2074 LNPK Zornitza Stark Classified gene: LNPK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2074 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2073 LNPK Zornitza Stark reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: None; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 LNPK Zornitza Stark gene: LNPK was added
gene: LNPK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: LNPK was set to Unknown