Neurological ciliopathies

Gene: ZNF423

Amber List (moderate evidence)

ZNF423 (zinc finger protein 423)
EnsemblGeneIds (GRCh38): ENSG00000102935
EnsemblGeneIds (GRCh37): ENSG00000102935
OMIM: 604557, Gene2Phenotype
ZNF423 is in 16 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Homozygous mutations only reported in two siblings with nephronophthisis and two Joubert patients found to have heterozygous mutations
Created: 23 Jan 2017, 12:15 p.m.

Penny Clouston (Oxford)

Red List (low evidence)

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

History Filter Activity

25 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ZNF423 was added gene: ZNF423 was added to Neurological ciliopathies. Sources: Expert Review Amber Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ZNF423 were set to Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844