Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Intellectual disability - microarray and sequencing v3.613 PIK3R1 Arina Puzriakova Classified gene: PIK3R1 as Red List (low evidence)
Intellectual disability - microarray and sequencing v3.613 PIK3R1 Arina Puzriakova Added comment: Comment on list classification: Following discussion with the Genomics England clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark
Intellectual disability - microarray and sequencing v3.613 PIK3R1 Arina Puzriakova Gene: pik3r1 has been classified as Red List (Low Evidence).
Intellectual disability - microarray and sequencing v3.0 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM#269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability - microarray and sequencing PIK3R1 BRIDGE consortium edited their review of PIK3R1
Intellectual disability - microarray and sequencing PIK3R1 BRIDGE consortium edited their review of PIK3R1
Intellectual disability - microarray and sequencing PIK3R1 Louise Daugherty classified PIK3R1 as amber
Intellectual disability - microarray and sequencing PIK3R1 Louise Daugherty commented on PIK3R1
Intellectual disability - microarray and sequencing PIK3R1 BRIDGE consortium reviewed PIK3R1