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Syndromic Retinopathy

Gene: ZNF423

Red List (low evidence)
ZNF423 (zinc finger protein 423)
EnsemblGeneIds (GRCh38): ENSG00000102935
EnsemblGeneIds (GRCh37): ENSG00000102935
OMIM: 604557, Gene2Phenotype
ZNF423 is in 10 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Limited reports of both mono-allelic and bi-allelic variants in association with JBTS, but variant pathogenicity not fully established (e.g. no parental segregation). Gene-disease association rated as LIMITED by ClinGen for bi-allelic variants.
Created: 23 Mar 2022, 9:40 p.m. | Last Modified: 23 Mar 2022, 9:40 p.m.
Panel Version: 0.187

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 19 (MIM#614844)

Publications

Created: 23 Mar 2022, 9:40 p.m.
Last Modified: 23 Mar 2022, 9:40 p.m.
Panel version: 0.187

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Limited reports, single publication in 2012 reported AD and AR inheritance. Mechanism not well established. Pending additional reports.

2 Turkish sibs with Joubert syndrome with homozygous mutation in the ZNF423 gene.
Two additional patients with Joubert syndrome were found to carry heterozygous ZNF423 mutations , which caused a dominant-negative effect on protein function in cellular studies. Published variants not present in gnomAD at unexpected frequencies and minimal LoF variants in gnomAD
Created: 20 May 2020, 3:45 a.m. | Last Modified: 20 May 2020, 3:45 a.m.
Panel Version: 0.162

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 19 (MIM#614844)

Publications

Mode of pathogenicity
Other

Created: 20 May 2020, 3:45 a.m.
Last Modified: 20 May 2020, 3:45 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.162

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a reported feature of the phenotype in JBS19.
Created: 16 Jan 2020, 4:10 a.m. | Last Modified: 16 Jan 2020, 4:10 a.m.
Panel Version: 0.9

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 19, 614844

Created: 16 Jan 2020, 4:10 a.m.
Last Modified: 16 Jan 2020, 4:10 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.9

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • RetNet
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 19 (MIM#614844)
OMIM
604557
Clinvar variants
Variants in ZNF423
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf423 has been classified as Red List (Low Evidence).

23 Mar 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19 (MIM#614844)

23 Mar 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF423 were set to

23 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf423 has been classified as Red List (Low Evidence).

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: ZNF423 was added gene: ZNF423 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal