Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Intellectual disability syndromic and non-syndromic v0.5435 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Intellectual disability syndromic and non-syndromic v0.5435 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5435 WDR45 Zornitza Stark Phenotypes for gene: WDR45 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; neurodegeneration with brain iron accumulation 5 MONDO:0010476
Intellectual disability syndromic and non-syndromic v0.5434 WDR45 Zornitza Stark Publications for gene: WDR45 were set to
Intellectual disability syndromic and non-syndromic v0.5433 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5399 WDR45 Kaitlyn Dianna Weldon reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 28211668; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148, neurodegeneration with brain iron accumulation 5 MONDO:0010476; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.3518 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Intellectual disability syndromic and non-syndromic v0.3518 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3518 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977
Intellectual disability syndromic and non-syndromic v0.3517 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Intellectual disability syndromic and non-syndromic v0.3516 WDR45B Zornitza Stark Mode of inheritance for gene: WDR45B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3515 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 WDR45B Zornitza Stark gene: WDR45B was added
gene: WDR45B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR45B was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: WDR45 was set to Unknown