Summary Statistics:
Gene Score: S
Relevance to Autism
Mutations in the CHAMP1 gene are associated with a form of autosomal dominant intellectual disability (MRD40; OMIM 616579); affected individuals frequently display behavioral abnormalities, and autism or autistic features such as stereotypic behavior have been observed in a subset of individuals with this disorder (Hempel et al., 2015; Isidor et al., 2016; Tanaka et al., 2016; Okamoto et al., 2017). A de novo missense variant in the CHAMP1 gene has also been identified in an ASD proband from a multiplex family from the ASD: Genomes to Outcome Study cohort in Yuen et al., 2017.
Molecular Function
This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles.
References
Primary
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Autosomal dominant mental retardation-40 (MRD40)
ASD, stereotypy
Support
DD, epilepsy/seizures
Support
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.
Autosomal dominant mental retardation-40 (MRD40)
Autistic features (ritualized behavior)
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID
Support
DD, ID
Stereotypy
Support
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Autosomal dominant mental retardation-40 (MRD40)
ASD
Support
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
Autosomal dominant mental retardation-40
DD, ID
Support
Neurodevelopmental disorder with hypotonia, impair
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First Chinese patient with mental retardation-40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review
Autosomal dominant mental retardation-40
DD
Support
DD, ID, epilepsy/seizures
Stereotypy
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Deficiency of CHAMP1, a gene related to intellectual disability, causes impaired neuronal development and a mild behavioural phenotype
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Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation.
Autosomal dominant mental retardation-40 (MRD40)
Stereotypy
Support
Integrating de novo and inherited variants in 42
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism
Autosomal dominant intellectual developmental diso
ASD, ADHD
Recent Recommendation
Neurodevelopmental Phenotypes in Individuals with Pathogenic Variants in CHAMP1
DD/ID
ASD, epilepsy/seizures
GEN1134R001
frameshift_variant
c.1866_1867del
p.Asp622GlufsTer8
De novo
GEN1134R002
stop_gained
c.1768C>T
p.Gln590Ter
De novo
GEN1134R003
stop_gained
c.1192C>T
p.Arg398Ter
De novo
GEN1134R004
frameshift_variant
c.635del
p.Pro212LeufsTer7
De novo
GEN1134R005
stop_gained
c.1192C>T
p.Arg398Ter
De novo
GEN1134R006
stop_gained
c.1880C>G
p.Ser627Ter
De novo
Simplex
GEN1134R007
stop_gained
c.1002G>A
p.Trp334Ter
De novo
Simplex
GEN1134R008
frameshift_variant
c.1876_1877del
p.Ser626LeufsTer4
De novo
Simplex
GEN1134R009
stop_gained
c.1043G>A
p.Trp348Ter
De novo
Simplex
GEN1134R010
frameshift_variant
c.958_959del
p.Pro320Ter
De novo
Simplex
GEN1134R011
stop_gained
c.1489C>T
p.Arg497Ter
De novo
Simplex
GEN1134R012
frameshift_variant
c.1044del
p.Trp348Ter
De novo
GEN1134R013
frameshift_variant
c.542_543del
p.Ser181CysfsTer5
De novo
GEN1134R014
stop_gained
c.1945C>T
p.Gln649Ter
De novo
GEN1134R015
stop_gained
c.1969C>T
p.Gln657Ter
De novo
GEN1134R016
stop_gained
c.2029G>T
p.Glu677Ter
De novo
GEN1134R017
missense_variant
c.1292G>A
p.Arg431His
De novo
Multiplex
GEN1134R018
frameshift_variant
c.2068_2069del
p.Glu690SerfsTer5
De novo
Simplex
GEN1134R019
stop_gained
c.1192C>T
p.Arg398Ter
De novo
GEN1134R020
stop_lost
c.2438G>T
p.Ter813LeuextTer1
Unknown
GEN1134R021
frameshift_variant
c.606dup
p.Pro203SerfsTer14
Unknown
GEN1134R022
frameshift_variant
c.1880dup
p.Asp628ArgfsTer3
Unknown
GEN1134R023
frameshift_variant
c.2067_2070del
p.Glu690LeufsTer12
Unknown
GEN1134R024
frameshift_variant
c.606del
p.Pro203LeufsTer16
Unknown
GEN1134R025
stop_gained
c.1192C>T
p.Arg398Ter
Unknown
GEN1134R026
stop_lost
c.2438G>T
p.Ter813LeuextTer1
Unknown
GEN1134R027
missense_variant
c.37C>T
p.Arg13Cys
Unknown
GEN1134R028
frameshift_variant
c.542_543del
p.Ser181CysfsTer5
De novo
GEN1134R029
frameshift_variant
c.661dup
p.Thr221AsnfsTer3
De novo
GEN1134R030
frameshift_variant
c.959dup
p.Arg321Ter
De novo
GEN1134R031
stop_gained
c.1489C>T
p.Arg497Ter
De novo
GEN1134R032
stop_gained
c.1489C>T
p.Arg497Ter
De novo
GEN1134R033
stop_gained
c.1489C>T
p.Arg497Ter
De novo
GEN1134R034
stop_gained
c.1489C>T
p.Arg497Ter
De novo
GEN1134R035
stop_gained
c.1544G>A
p.Trp515Ter
De novo
GEN1134R036
stop_gained
c.1657G>T
p.Glu553Ter
De novo
GEN1134R037
frameshift_variant
c.1850dup
p.Lys618GlufsTer13
De novo
GEN1134R038
stop_gained
c.2127T>G
p.Tyr709Ter
De novo
GEN1134R039
stop_gained
c.2127T>G
p.Tyr709Ter
De novo
GEN1134R040
frameshift_variant
c.530delinsTTT
p.Ser177PhefsTer2
De novo
Simplex
GEN1134R041
stop_gained
c.1465C>T
p.Gln489Ter
De novo
Simplex
GEN1134R042
frameshift_variant
c.1995dup
p.Ser666Ter
De novo
Simplex
GEN1134R043
synonymous_variant
c.1596C>T
p.Pro532%3D
De novo
Simplex
GEN1134R044
stop_gained
c.1858A>T
p.Lys620Ter
De novo
Simplex
GEN1134R045
missense_variant
c.67G>A
p.Gly23Ser
De novo
Simplex
GEN1134R046
copy_number_loss
De novo
Simplex
GEN1134R047
stop_gained
c.1192C>T
p.Arg398Ter
De novo
Simplex
GEN1134R048
frameshift_variant
c.1903_1906del
p.Glu635ThrfsTer2
De novo
No Common Variants Available
13
Deletion-Duplication
2
13
Deletion-Duplication
4
13
Deletion-Duplication
2
13
Deletion-Duplication
3
13
Deletion-Duplication
3
13
Deletion-Duplication
25
No Interactions Available
