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Relevance to Autism

Shukla et al., 2019 reported five individuals from three pedigrees with maternally-inherited missense variants in the BCORL1 gene that presented with an X-linked neurodevelopmental disorder characterized by intellectual disability, behavioral abnormalities, and dysmorphic features; autism spectrum disorder was reported in all five individuals in this report. A rare de novo missense variant in this gene had previously been identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).

Molecular Function

The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and be...
ASD, ID
ADHD, epilepsy/seizures, dysmorphic features
Support
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
DD, ID, epilepsy/seizures
Autistic features
Support
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders
ADHD, DD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Motor delay
Autistic features
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1084R001 
 missense_variant 
 c.2345T>A 
 p.Val782Glu 
 Familial 
 Maternal 
  
 GEN1084R002 
 missense_variant 
 c.1487C>T 
 p.Ser496Phe 
 Familial 
 Maternal 
 Simplex 
 GEN1084R003 
 missense_variant 
 c.95C>T 
 p.Pro32Leu 
 Familial 
 Maternal 
 Multiplex 
 GEN1084R004 
 missense_variant 
 c.2390G>A 
 p.Cys797Tyr 
 De novo 
 NA 
 Simplex 
 GEN1084R005 
 missense_variant 
 c.1584C>G 
 p.Cys528Trp 
 Unknown 
  
 Unknown 
 GEN1084R006 
 missense_variant 
 GG>TT 
  
 De novo 
 NA 
  
 GEN1084R007 
 frameshift_variant 
 c.1562_1563del 
 p.Leu521ArgfsTer13 
 De novo 
 NA 
 Simplex 
 GEN1084R008 
 missense_variant 
 c.796C>T 
 p.Pro266Ser 
 Familial 
 Maternal 
 Multiplex 
 GEN1084R009 
 missense_variant 
 c.3376G>A 
 p.Asp1126Asn 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 20
 
X
Duplication
 2
 
X
Deletion-Duplication
 1
 

No Animal Model Data Available

 

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