ZNF18zinc finger protein 18
Autism Reports / Total Reports
2 / 2Rare Variants / Common Variants
7 / 0Aliases
ZNF18, HDSG1, KOX11, ZKSCAN6, ZNF535, Zfp535Associated Syndromes
-Chromosome Band
17p12Associated Disorders
-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
SFARI Genomic Platforms
Reports related to ZNF18 (2 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism | Chahrour MH , et al. (2012) | Yes | - |
2 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (7)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.647T>A | p.Leu216Gln | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.216A>G | p.Pro72%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.440C>T | p.Pro147Leu | missense_variant | Familial | - | - | 22511880 | Chahrour MH , et al. (2012) | |
c.1299G>C | p.Glu433Asp | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.1313G>A | p.Cys438Tyr | missense_variant | Familial | - | - | 22511880 | Chahrour MH , et al. (2012) | |
c.440C>T | p.Pro147Leu | missense_variant | Familial | Both parents | - | 22511880 | Chahrour MH , et al. (2012) | |
c.1129C>A | p.Pro377Thr | missense_variant | Familial | Both parents | Multiplex | 22511880 | Chahrour MH , et al. (2012) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


A homozygous missense 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).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022

Decreased from 3 to 2
Description
A homozygous missense 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).
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
A homozygous missense 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).
Reports Added
[New Scoring Scheme]7/1/2018

Increased from to 4
Description
A homozygous missense 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).
Krishnan Probability Score
Score 0.41235338841517
Ranking 22128/25841 scored genes
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ExAC Score
Score 0.0002382024779816
Ranking 12611/18225 scored genes
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Sanders TADA Score
Score 0.61076662454465
Ranking 745/18665 scored genes
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Larsen Cumulative Evidence Score
Score 7
Ranking 247/461 scored genes
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Zhang D Score
Score 0.51175346477331
Ranking 430/20870 scored genes
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