Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 9 actions
07 Dec 2020	Intellectual disability v3.613	PIK3R1	Arina Puzriakova Classified gene: PIK3R1 as Red List (low evidence)
07 Dec 2020	Intellectual disability 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
07 Dec 2020	Intellectual disability v3.613	PIK3R1	Arina Puzriakova Gene: pik3r1 has been classified as Red List (Low Evidence).
12 Feb 2020	Intellectual disability 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
02 Aug 2017	Intellectual disability	PIK3R1	BRIDGE consortium edited their review of PIK3R1
27 Jul 2017	Intellectual disability	PIK3R1	BRIDGE consortium edited their review of PIK3R1
20 Jul 2017	Intellectual disability	PIK3R1	Louise Daugherty classified PIK3R1 as amber
20 Jul 2017	Intellectual disability	PIK3R1	Louise Daugherty commented on PIK3R1
19 Jul 2017	Intellectual disability	PIK3R1	BRIDGE consortium reviewed PIK3R1