ZNF18
Homo sapiens
Gene Name: zinc finger protein 18
Aliases: HDSG1, KOX11, ZKSCAN6, ZNF535, Zfp535
Chromosome No: 17
Chromosome Band: 17p12
Genetic Category: Rare single gene variant
Aliases: HDSG1, KOX11, ZKSCAN6, ZNF535, Zfp535
Chromosome No: 17
Chromosome Band: 17p12
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 7
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A homozygous mutation in the ZNF18 gene was found to segregate perfectly with disease in a multiplex ASD family. No homozygotes for this mutation were observed in 1340 control chromosomes. An additional homozygous mutation, as well as a compound heterozygous mutation, in the ZNF18 gene were identified in two ASD cases from the replication cohort that were not observed in 371 controls (Chahrour et al., 2012).
Molecular Function
May be involved in transcriptional regulation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
ASD
