CBS
Homo sapiens
Gene Name: cystathionine beta-synthase
Aliases: HIP4
Chromosome No: 21
Chromosome Band: 21q22.3
Genetic Category: Functional, Negative association--Syndromic-Rare single gene variant
Aliases: HIP4
Chromosome No: 21
Chromosome Band: 21q22.3
Genetic Category: Functional, Negative association--Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 2
Annotated variants: 9
Associated CNVs: 8
Evidence score: 2
ASD Reports: 10
Recent Reports: 2
Annotated variants: 9
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A study found no functional association between cystathionine beta-synthase (CBS) deficiency and reproductive fitness.
Molecular Function
The encoded protein catalyzes conversion of homocysteine to cystathionine.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Support
Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurol...
Homocystinuria with or without response to pyridox
Support
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Homocystinuria with or without response to pyridox
ID, hypotonia
Support
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
Homocystinuria with or without response to pyridox
Highly Cited
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Recent Recommendation
A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia
ASD
Recent Recommendation
Hyperhomocysteinemia in movement disorders: Current evidence and hypotheses.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN039R001a
missense_variant
c.341C>T
p.Ala114Val
Familial
Both parents
Multiplex
GEN039R003
frameshift_variant
c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
p.Ile278ThrfsTer16
Familial
GEN039R004
frameshift_variant
c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
p.Ile278ThrfsTer16
Familial
GEN039R007
frameshift_variant
c.892_893insC
p.Gln298ProfsTer32
Familial
Maternal
Multiplex
Common
No Common Variants Available
