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  2. Ophthalmological ciliopathies
  3. ZNF423
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Ophthalmological ciliopathies

Gene: ZNF423

Amber List (moderate evidence)
ZNF423 (zinc finger protein 423)
EnsemblGeneIds (GRCh38): ENSG00000102935
EnsemblGeneIds (GRCh37): ENSG00000102935
OMIM: 604557, Gene2Phenotype
ZNF423 is in 15 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.
Created: 23 Jan 2017, 12:15 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.428

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

Created: 16 Mar 2016, 4:02 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Joubert syndrome" panel version 0.40

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 19, OMIM:614844
  • Nephronophthisis 14, OMIM:614844
OMIM
604557
Clinvar variants
Variants in ZNF423
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Mar 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ZNF423 were changed from Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844 to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844

10 Jul 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: ZNF423 was added gene: ZNF423 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,Expert Review Amber,Radboud University Medical Center, Nijmegen,Orphanet Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ZNF423 were set to 22863007 Phenotypes for gene: ZNF423 were set to Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844