07 Dec 2020
Intellectual disability - microarray and sequencing v3.616
PKD1L1
Arina Puzriakova Classified gene: PKD1L1 as Red List (low evidence)
07 Dec 2020
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)
07 Dec 2020
Intellectual disability - microarray and sequencing v3.616
PKD1L1
Arina Puzriakova Gene: pkd1l1 has been classified as Red List (Low Evidence).
12 Feb 2020
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
02 Aug 2017
Intellectual disability - microarray and sequencing
PKD1L1
BRIDGE consortium edited their review of PKD1L1
28 Jul 2017
Intellectual disability - microarray and sequencing
PKD1L1
Louise Daugherty classified PKD1L1 as amber
28 Jul 2017
Intellectual disability - microarray and sequencing
PKD1L1
Louise Daugherty commented on PKD1L1
27 Jul 2017
Intellectual disability - microarray and sequencing
PKD1L1
BRIDGE consortium reviewed PKD1L1