Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability - microarray and sequencing v3.616 PKD1L1 Arina Puzriakova Classified gene: PKD1L1 as Red List (low evidence)
Intellectual disability - microarray and sequencing v3.616 PKD1L1 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 (Australian Genomics)
Intellectual disability - microarray and sequencing v3.616 PKD1L1 Arina Puzriakova Gene: pkd1l1 has been classified as Red List (Low Evidence).
Intellectual disability - microarray and sequencing v3.0 PKD1L1 Zornitza Stark reviewed gene: PKD1L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 8, autosomal, MIM# 617205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing PKD1L1 BRIDGE consortium edited their review of PKD1L1
Intellectual disability - microarray and sequencing PKD1L1 Louise Daugherty classified PKD1L1 as amber
Intellectual disability - microarray and sequencing PKD1L1 Louise Daugherty commented on PKD1L1
Intellectual disability - microarray and sequencing PKD1L1 BRIDGE consortium reviewed PKD1L1