Human Gene Module / Chromosome 20 / ZMYND8

ZMYND8zinc finger MYND-type containing 8

High Confidence Criteria 1.1
Autism Reports / Total Reports
4 / 4
Rare Variants / Common Variants
5 / 0
Associated Syndromes
Genetic Category
Rare Single Gene Mutation
Chromosome Band
Associated Disorders
Relevance to Autism

De novo variants in the ZMYND8 gene, including two protein-truncating variants, have been identified in ASD probands from the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genetic Resource Exchange (Iossifov et al., 2014; Yuen et al., 2017; Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified ZMYND8 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).

Molecular Function

The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator.

Reports related to ZMYND8 (4 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
2 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017) Yes -
3 Recent recommendation Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
4 Support A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders Suzuki T et al. (2020) Yes -
Rare Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.2032G>A p.Ala678Thr missense_variant De novo NA Simplex 25363768 Iossifov I et al. (2014)
c.1786A>G p.Ile596Val missense_variant De novo NA Multiplex 28263302 C Yuen RK et al. (2017)
c.2154_2158del p.Arg719GlyfsTer5 frameshift_variant De novo NA Simplex 32530565 Suzuki T et al. (2020)
c.1964dup p.Pro656AlafsTer10 frameshift_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.3621del p.Ser1208ArgfsTer62 frameshift_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
Common Variants  

No common variants reported.

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