HELP     Sign In
Search

Relevance to Autism

Variants in the BRWD3 gene are responsible for a form of X-linked intellectual disability associated with macrocephaly (Field et al., 2007; Tatton-Brown et al., 2017). A review of 17 males with 12 distinct null variants and 2 partial gene deletions in BRWD3 demonstrated that behavioral issues were present in 75% of patients, with ASD observed in 3 patients and shyness in social situations observed in another 3 patients (Ostrowski et al., 2019).

Molecular Function

The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
ID
Macrocephaly
Support
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Childhood apraxia of speech
ASD, ADD, DD, ID
Support
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
ID
Macrocephaly
Recent Recommendation
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17...
ID
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1132R001 
 splice_site_variant 
 c.3325+1G>T 
  
 Familial 
 Maternal 
 Multi-generational 
 GEN1132R002 
 frameshift_variant 
 c.682dup 
 p.Met228AsnfsTer4 
 Familial 
 Maternal 
 Multiplex 
 GEN1132R003 
 missense_variant 
 c.4601A>G 
 p.His1534Arg 
 Familial 
 Maternal 
 Multi-generational 
 GEN1132R004 
 stop_gained 
 c.568C>T 
 p.Arg190Ter 
 Familial 
 Maternal 
  
 GEN1132R005 
 stop_gained 
 c.696T>A 
 p.Tyr232Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN1132R006 
 frameshift_variant 
 c.447_451del 
 p.Arg150IlefsTer5 
 Familial 
 Maternal 
 Simplex 
 GEN1132R007 
 frameshift_variant 
 c.2062_2064delinsCCAT 
 p.Met688ProfsTer2 
 Unknown 
  
  
 GEN1132R008 
 frameshift_variant 
 c.2312dup 
 p.Tyr771Ter 
 Unknown 
  
 Simplex 
 GEN1132R009 
 splice_site_variant 
 c.3602G>A 
 p.Arg1201Lys 
 Unknown 
  
  
 GEN1132R010 
 stop_gained 
 c.451C>T 
 p.Gln151Ter 
 Unknown 
  
  
 GEN1132R011 
 frameshift_variant 
 c.171del 
 p.Phe57LeufsTer27 
 Familial 
 Maternal 
 Simplex 
 GEN1132R012 
 stop_gained 
 c.451C>T 
 p.Gln151Ter 
 Familial 
 Maternal 
  
 GEN1132R013 
 stop_gained 
 c.696T>A 
 p.Tyr232Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN1132R014 
 stop_gained 
 c.2368C>T 
 p.Gln790Ter 
 Unknown 
  
  
 GEN1132R015 
 stop_gained 
 c.3976C>T 
 p.Arg1326Ter 
 Familial 
 Maternal 
  
 GEN1132R016 
 stop_gained 
 c.4487C>A 
 p.Ser1496Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN1132R017 
 stop_gained 
 c.4487C>A 
 p.Ser1496Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN1132R018 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1132R019 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1132R020 
 missense_variant 
 c.2824A>G 
 p.Met942Val 
 Familial 
 Maternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 14
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion
 1
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.