1. Panels
  2. Hereditary ataxia
  3. ZNF592

Hereditary ataxia

Gene: ZNF592

Red List (low evidence)
ZNF592 (zinc finger protein 592)
EnsemblGeneIds (GRCh38): ENSG00000166716
EnsemblGeneIds (GRCh37): ENSG00000166716
OMIM: 613624, Gene2Phenotype
ZNF592 is in 5 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from 2015 paper that disease now due to another gene
Created: 4 Feb 2016, 2:32 p.m.
Created: 4 Feb 2016, 2:32 p.m.

Panel version: 0.30

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Evidence recently called into question probably not appropriate at this time. Delete.
Created: 24 Nov 2015, 4:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 5

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Nov 2015, 4:58 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 5
OMIM
613624
Clinvar variants
Variants in ZNF592
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ZNF592 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF592 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF592 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN