Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.3497 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Intellectual disability syndromic and non-syndromic v0.3497 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3497 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Intellectual disability syndromic and non-syndromic v0.3496 AP4S1 Zornitza Stark Publications for gene: AP4S1 were set to
Intellectual disability syndromic and non-syndromic v0.3495 AP4S1 Zornitza Stark Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3494 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 25552650, 32979048, 32216065, 31915823, 30283821, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM# 614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 AP4S1 Zornitza Stark gene: AP4S1 was added
gene: AP4S1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AP4S1 was set to Unknown