TM4SF20
Homo sapiens
Gene Name: Transmembrane 4 L six family member 20
Aliases: UNQ518/PRO994, PRO994, TCCE518
Chromosome No: 2
Chromosome Band: 2q36.3
Genetic Category: Rare single gene variant-Syndromic
Aliases: UNQ518/PRO994, PRO994, TCCE518
Chromosome No: 2
Chromosome Band: 2q36.3
Genetic Category: Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 9
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A complex 4 kb deletion in 2q36.3 that removes an exon from the TM4SF20 gene was identified in 15 unrelated families (predominantly from Southeast Asia) that segregated with early childhood communication disorders, ranging from early language delay to autism spectrum disorder, and white matter hyperintensities (WMH) (Wiszniewski et al., 2013).
Molecular Function
This gene encodes a multi-pass membrane protein that belongs to the L6 tetraspanin family.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
DD
ASD, epilepsy
Support
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders
ASD
ADHD
