Regression
Gene: ZNF592

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

A 2010 paper reported 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: 12 Apr 2020, 11:36 a.m. | Last Modified: 12 Apr 2020, 11:36 a.m.

Panel Version: 0.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5

Publications

Created: 12 Apr 2020, 11:36 a.m.
Last Modified: 12 Apr 2020, 11:36 a.m.
Panel version: 0.101

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5

OMIM

613624

Clinvar variants

Variants in ZNF592

Penetrance

None

Publications

Panels with this gene