RLIM
Homo sapiens
Gene Name: Ring finger protein, LIM domain interacting
Aliases: NY-REN-43, RNF12
Chromosome No: X
Chromosome Band: Xq13.2
Genetic Category: Rare single gene variant-Syndromic-
Aliases: NY-REN-43, RNF12
Chromosome No: X
Chromosome Band: Xq13.2
Genetic Category: Rare single gene variant-Syndromic-
Summary Statistics:
ASD Reports: 7
Recent Reports: 4
Annotated variants: 20
Associated CNVs: 12
Evidence score: 2
ASD Reports: 7
Recent Reports: 4
Annotated variants: 20
Associated CNVs: 12
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare missense variant in the RLIM gene (c.1067A>G; p.Tyr356Cys) segregated with disease in a three-generation Norwegian family with a novel X-linked intellectual disability syndrome characterized by autism, subtle facial dysmorphism, and severe feeding problems (Tonne et al., 2015).
Molecular Function
The protein encoded by this gene is a E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM) for proteasome-dependent degradation1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. By targeting ZFP42 for degradation, RLIM acts as an activator of random inactivation of X chromosome in the embryo.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
ASD, ID
Support
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
ASD, DD, ID, epilepsy/seizures
Recent Recommendation
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
ID
ASD/autistic features
Recent Recommendation
RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.
Recent Recommendation
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Recent Recommendation
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
ID
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN708R001
missense_variant
c.1067A>G
p.Tyr356Cys
Familial
Maternal
Multi-generational
GEN708R002
missense_variant
c.1760C>G
p.Pro587Arg
Familial
Maternal
Multi-generational
GEN708R003
missense_variant
c.1159C>T
p.Arg387Cys
Familial
Maternal
Multi-generational
GEN708R004
missense_variant
c.1795C>T
p.Arg599Cys
Familial
Maternal
Multi-generational
GEN708R006
missense_variant
c.1093C>T
p.Arg365Cys
Familial
Maternal
Multiplex
GEN708R007
missense_variant
c.1729T>C
p.Tyr577His
Familial
Maternal
Multi-generational
GEN708R008
missense_variant
c.1792G>A
p.Asp598Asn
Familial
Maternal
Multi-generational
GEN708R009
missense_variant
c.1831C>T
p.Arg611Cys
Familial
Maternal
Extended multiplex
Common
No Common Variants Available
