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  3. ZNF592
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Ataxia - paediatric

Gene: ZNF592

Red List (low evidence)
ZNF592 (zinc finger protein 592)
EnsemblGeneIds (GRCh38): ENSG00000166716
EnsemblGeneIds (GRCh37): ENSG00000166716
OMIM: 613624, Gene2Phenotype
ZNF592 is in 3 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Red List (low evidence)

No patients reported with ZNF592 variant that is clearly disease causing.

A 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly conclusive for pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).
Created: 28 Feb 2020, 7:33 a.m. | Last Modified: 28 Feb 2020, 7:34 a.m.
Panel Version: 0.1496

Publications

Created: 28 Feb 2020, 7:33 a.m.
Last Modified: 28 Feb 2020, 7:34 a.m.
Panel version: Imported from Mendeliome panel version 0.1496

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 5
  • Galloway-Mowat Syndrome 1, 251300
OMIM
613624
Clinvar variants
Variants in ZNF592
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf592 has been classified as Red List (Low Evidence).

19 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ZNF592 was added gene: ZNF592 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF592 were set to 20531441; 26123727 Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5; Galloway-Mowat Syndrome 1, 251300