RPL10
Homo sapiens
Gene Name: ribosomal protein L10
Aliases: QM; NOV; DXS648; DXS648E; FLJ23544; FLJ27072; DKFZp686J1851
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Rare single gene variant-Syndromic
Aliases: QM; NOV; DXS648; DXS648E; FLJ23544; FLJ27072; DKFZp686J1851
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 14
Recent Reports: 6
Annotated variants: 10
Associated CNVs: 11
Evidence score: 3
ASD Reports: 14
Recent Reports: 6
Annotated variants: 10
Associated CNVs: 11
Evidence score: 3
Gene Score: 4
Associated Disorders: |
|
Relevance to Autism
Rare mutations in the RPL10 gene have been identified with autism (Klauck et al., 2006).
Molecular Function
This gene encodes a ribosomal protein that is a component of the 60S subunit. Th e protein belongs to the L10E family of ribosomal proteins.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
ASD
Negative Association
An investigation of ribosomal protein L10 gene in autism spectrum disorders.
Support
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder
DD
Autistic features, stereotypy
Support
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and re...
ASD, ID, epilepsy/seizures
Hypotonia, ataxia, microcephaly, dysmorphic featur
Support
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
ID
Support
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
ID, speech delay, psychomotor delay
Microcephaly
Support
Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.
ASD
Recent Recommendation
Protein signatures of oxidative stress response in a patient specific cell line model for autism.
Recent Recommendation
Saccharomyces cerevisiae HMO1 interacts with TFIID and participates in start site selection by RNA polymerase II.
Recent Recommendation
Mutational analysis of the ribosomal protein Rpl10 from yeast.
Recent Recommendation
Ribosomal protein L10 interacts with the SH3 domain and regulates GDNF-induced neurite growth in SH-SY-5y cells.
Recent Recommendation
Loss of heterozygosity and microsatellite instability at the Xq28 and the A/G heterozygosity of the QM gene are associated with ovarian cancer.
Recent Recommendation
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
Microcephaly, seizures
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN220R001
missense_variant
c.616C>A
p.Leu206Met
Familial
Maternal
Multiplex
GEN220R002
missense_variant
c.639C>G
p.His213Gln
Familial
Maternal
Multiplex
GEN220R003
missense_variant
c.639C>G
p.His213Gln
Familial
Maternal
Simplex
GEN220R004
missense_variant
c.232A>G
p.Lys78Glu
Familial
Maternal
Multi-generational
GEN220R005
missense_variant
c.481G>A
p.Glu161Lys
Familial
Maternal
Multi-generational
GEN220R006
missense_variant
c.191C>T
p.Ala64Val
Familial
Maternal
Extended multiplex
Common
No Common Variants Available