TANC2
Homo sapiens
Gene Name: etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
Aliases: ROLSA, rols
Chromosome No: 17
Chromosome Band: 17q23.2-q23.3
Genetic Category: Rare single gene variant--Syndromic-Functional
Aliases: ROLSA, rols
Chromosome No: 17
Chromosome Band: 17q23.2-q23.3
Genetic Category: Rare single gene variant--Syndromic-Functional
Summary Statistics:
ASD Reports: 16
Recent Reports: 3
Annotated variants: 42
Associated CNVs: 6
Evidence score: 4
ASD Reports: 16
Recent Reports: 3
Annotated variants: 42
Associated CNVs: 6
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
A de novo loss-of-function variant in this gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014. A likely damaging missense variant in this gene was subsequently identified in an ASD proband from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017.
Molecular Function
This gene encodes a protien of unknown function.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
Diagnostic exome sequencing in persons with severe intellectual disability.
ID
Support
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders
ASD, DD, ID, epilepsy/seizures
Support
Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca2+/CaM Controls DCV Binding and Liprin-/TANC2 Recruits DCVs to Postsynaptic Sites.
ASD, ID
Support
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Congenital heart disease (CHD)
Neurodevelopmental disorders (NDD)
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk
Recent Recommendation
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
ASD or autistic features, DD, ID
Epilepsy/seizures
Recent Recommendation
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.
ASD
Recent Recommendation
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN878R022
frameshift_variant
c.2781del
p.Ala928GlnfsTer4
Familial
Maternal
Multiplex
GEN878R023
frameshift_variant
c.2349_2350dup
p.Cys784SerfsTer22
Familial
Paternal
Simplex
GEN878R025
frameshift_variant
c.4713_4716del
p.Gln1572PhefsTer41
Unknown
Unknown
GEN878R032
frameshift_variant
c.747_748del
p.Leu251IlefsTer34
De novo
Simplex
GEN878R037
frameshift_variant
c.4586del
p.Pro1529GlnfsTer23
Familial
Maternal
Multiplex
Common
No Common Variants Available
