CEP41
Homo sapiens
Gene Name: testis specific, 14
Aliases: Cep41; DKFZp762H1311; TSGA14
Chromosome No: 7
Chromosome Band: 7q32.2
Genetic Category: Rare Single Gene variant-Syndromic-Rare single gene variant/Functional
Associated Syndrome(s): Joubert syndrome 15
Aliases: Cep41; DKFZp762H1311; TSGA14
Chromosome No: 7
Chromosome Band: 7q32.2
Genetic Category: Rare Single Gene variant-Syndromic-Rare single gene variant/Functional
Associated Syndrome(s): Joubert syndrome 15
Summary Statistics:
ASD Reports: 10
Recent Reports: 3
Annotated variants: 19
Associated CNVs: 6
Evidence score: 3
ASD Reports: 10
Recent Reports: 3
Annotated variants: 19
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Rare variants in the CEP41 gene have been identified with autism in multiple studies (Korvatska et al., 2011; Patowary et al., 2019; Zhou et al., 2022; Greco et al., 2025; Kayhan et al., 2026). Functional characterization of ASD-associated CEP41 missense variants in zebrafish in Patowary et al., 2019 demonstrated that these variants affected development of the axonal tract, cranial neural crest migration and social behavior phenotypes. Additional functional assessment of the ASD-associated p.Arg242His variant in human cortical organoids in Hasenpusch-Theil et al., 2026 found that this variant affected the development of projection neurons and interneurons.
Molecular Function
A centrosomal protein
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in the TSGA14 gene in families with autism spectrum disorders.
ASD
Support
Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye
ASD
DD
Support
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants
ASD
ADHD, ID
Support
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
DD, ID, epilepsy/seizures
Support
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Joubert syndrome 15
Highly Cited
Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32.
Recent Recommendation
ASD mutations in the ciliary gene CEP41 impact development of projection neurons and interneurons in a human cortical organoid model.
ASD
Recent Recommendation
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN257R001
missense_variant
c.664C>G
p.Pro206Ala
Familial
Paternal
Multiplex
GEN257R002
missense_variant
c.664C>G
p.Pro206Ala
Familial
Paternal
Multiplex
GEN257R003
missense_variant
c.664C>G
p.Pro206Ala
Familial
Maternal
Multiplex
GEN257R004
missense_variant
c.664C>G
p.Pro206Ala
Familial
Maternal
Multiplex
GEN257R005
missense_variant
c.766T>G
p.Cys240Gly
Familial
Paternal
Multiplex
GEN257R006
splice_site_variant
c.192+5G>A
p.Arg33Asp
Familial
Paternal
Multiplex
Common
No Common Variants Available
