Rare multisystem ciliopathy disorders
Gene: ZNF423Comment when marking as ready: Homozygous mutations only reported in two siblings with nephronophthisis and two Joubert patients found to have heterozygous mutationsCreated: 23 Jan 2017, 12:15 p.m.
On current diagnostic panel; no positive families in patient cohort to date.Created: 16 Mar 2016, 4:02 p.m.
Phenotypes
Joubert syndrome; nephronphthisis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, 614844; Nephronophthisis 14, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14 to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Amber List (Moderate Evidence).
Publications for ZNF423 were set to 22863007
ZNF423 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
ZNF423 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
ZNF423 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
ZNF423 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene ZNF423 were set to Joubert syndrome 19, 614844;Nephronophthisis 14, 614844
ZNF423 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
ZNF423 was created by ellenmcdonagh