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.
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
Search interest in ZNF592
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 United States.
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 Portugal.
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 Germany.
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 Spain.
ZNF592 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ZNF592 gene.
More info about this panel United States.
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 Spain.
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