ZNF592
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ZNF592 (HGNC:28986) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
zinc finger protein 592
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SCAR5
Alias symbols
KIAA0211, CAMOS
%HI
48.68(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.21(Read more about gnomAD LOEUF score)
Cytoband
15q25.3
Genomic Coordinates
GRCh37/hg19: chr15:85291823-85349676 NCBI Ensembl UCSC
GRCh38/hg38: chr15:84748592-84806445 NCBI Ensembl UCSC
MANE Select Transcript
NM_014630.3 ENST00000560079.7 (Read more about MANE Select)
Function
May be involved in transcriptional regulation. {ECO:0000269|PubMed:20531441}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35648
ClinGen Curation ID:
CCID:008148
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
10/14/2021

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
ZNF592 was previously classified as "30:Gene associated with autosomal recessive condition" in 2016. This was based on a 2010 report of a single Lebanese family (PMID:20531441). Nicholas et al. identified 5 individuals within the family who have Cerebellar Ataxia with Mental Retardation, Optic atrophy and Skin abnormalities (CAMOS). A previous study identified a 3.6cM region that was likely disease causing and 10 candidate genes were selected from this region. A homozygous missense variant in ZNF592 (c.3135G>A) was identified in affected individuals and not identified in 444 Lebanese control chromosomes. Later, Vodopiutz et al. (2015) used genetic linkage analysis and exome sequencing on the same Lebanese family and identified a homozygous missense variant in WDR73 in all affected individuals. The variant was absent from 256 Lebanese control chromosomes and very rare in the EXAC database. The authors believe that this is the cause of the phenotype instead of the previously reported variant in ZNF592 (PMID: 26123727). Also in 2015, GWAS evidence suggested a possible role for this gene in neurosarcoidosis (PMID: 26478897). However, at this time, there is no convincing evidence to suggest that haploinsufficiency of ZNF592 results in a reasonably penetrant Mendelian disease.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)