CSMD1
Homo sapiens
Gene Name: CUB and Sushi multiple domains 1
Aliases: UNQ5952/PRO19863, PPP1R24
Chromosome No: 8
Chromosome Band: 8p23.2
Genetic Category: Genetic association-Rare Single Gene variant-Functional-Rare single gene variant/Functional
Aliases: UNQ5952/PRO19863, PPP1R24
Chromosome No: 8
Chromosome Band: 8p23.2
Genetic Category: Genetic association-Rare Single Gene variant-Functional-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 25
Recent Reports: 0
Annotated variants: 73
Associated CNVs: 9
Evidence score: 4
ASD Reports: 25
Recent Reports: 0
Annotated variants: 73
Associated CNVs: 9
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
Potentially damaging heterozygous missense variants in the CSMD1 gene were identified in affected members of two extended multiplex ASD families (Cukier et al., 2014).
Molecular Function
Weakly expressed in most tissues, except in brain (expressed at intermediate levels in brain, including cerebellum, substantia nigra, hippocampus, and fetal brain). Variants in this gene have been shown to associate with schizophrenia and bipolar disorder.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations.
ASD
Positive Association
The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia
Schizophrenia
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsies
Epilepsy/seizures
DD, ID
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
ASD
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Support
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort
ASD
DD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
DD, ID
ASD, ADHD, epilepsy/seizures
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
CSMD1 regulates brain complement activity and circuit development
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN596R001
missense_variant
c.6784C>G
p.Pro2262Ala
Familial
Extended multiplex (at least one pair of ASD affec
GEN596R002
missense_variant
c.2480G>A
p.Gly827Asp
Familial
Extended multiplex (at least one pair of ASD affec
GEN596R004
missense_variant
c.4120G>A
p.Gly1374Ser
Familial
Paternal
Multiplex
GEN596R035
frameshift_variant
c.6913del
p.Gln2305SerfsTer84
Familial
Maternal
Multiplex
GEN596R039a
missense_variant
c.559G>A
p.Val187Ile
Familial
Both parents
Simplex
GEN596R041a
missense_variant
c.5852C>T
p.Ser1951Phe
Familial
Both parents
Multiplex
GEN596R042a
missense_variant
c.8850C>G
p.His2950Gln
Familial
Paternal
Simplex
GEN596R042b
missense_variant
c.1507C>A
p.His503Asn
Familial
Maternal
Simplex
GEN596R043a
missense_variant
c.4920C>A
p.Asn1640Lys
Familial
Paternal
Multiplex
GEN596R043b
missense_variant
c.6762G>C
p.Gln2254His
Familial
Maternal
Multiplex
GEN596R046b
missense_variant
c.3044A>T
p.Asn1015Ile
Familial
Maternal
Simplex
GEN596R047b
missense_variant
c.1384G>A
p.Gly462Ser
Familial
Paternal
Simplex
GEN596R048a
missense_variant
c.7189G>C
p.Glu2397Gln
Familial
Paternal
Simplex
GEN596R048b
missense_variant
c.9287T>A
p.Leu3096Gln
Familial
Maternal
Simplex
GEN596R049a
missense_variant
c.7238C>T
p.Ser2413Phe
Familial
Maternal
Simplex
GEN596R049b
missense_variant
c.9349T>G
p.Ser3117Ala
Familial
Paternal
Simplex
GEN596R050a
missense_variant
c.1337C>T
p.Pro446Leu
Familial
Maternal
Simplex
GEN596R050b
missense_variant
c.2369C>G
p.Ala790Gly
Familial
Paternal
Simplex
GEN596R051a
missense_variant
c.2119C>G
p.Arg707Gly
Familial
Paternal
Simplex
GEN596R051b
splice_region_variant
c.4153+7G>C
p.?
Familial
Maternal
Simplex
GEN596R052a
missense_variant
c.9494G>A
p.Arg3165Gln
Familial
Maternal
Simplex
GEN596R052b
missense_variant
c.9860G>C
p.Arg3287Thr
Familial
Paternal
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN596C001
intergenic_variant
rs2733052
166 Japanese ASD probands, 642 healthy Japanese controls
Discovery
GEN596C002
intron_variant
rs139425113
c.415+96863_415+96864insT
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
GEN596C003
intron_variant
rs7017888
c.85+36272C>G;c.85+36272C>A
466 SCZ cases and 1273 controls from Germany, 506 SCZ cases and 896 controls from Denmark, and 161 SCZ cases and 275 controls from Norway
Discovery
