ZNF592 gene related symptoms and diseases

All the information presented here about the ZNF592 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ZNF592 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Muscular hypotonia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ZNF592 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Spasticity
  • Motor delay
  • Dysarthria
  • Optic atrophy
  • Renal insufficiency
  • Brain atrophy
  • Abnormality of the skin
  • Nephrotic syndrome

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ZNF592 gene

Here you will find a list of rare diseases related to the ZNF592. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CAMOS SYNDROME


Alternate names

CAMOS SYNDROME Is also known as scar5, cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome

Description

CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

Most common symptoms of CAMOS SYNDROME

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Muscular hypotonia


More info about CAMOS SYNDROME

SOURCES: ORPHANET


Potential gene panels for ZNF592 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Hereditary ataxias (NGS panel for 44 genes) Panel

Portugal.

By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1

More info about this panel

ZNF592 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZNF592 gene.

More info about this panel

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX

More info about this panel


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