PAH
Homo sapiens
Gene Name: Phenylalanine hydroxylase
Aliases: PH, PKU, PKU1
Chromosome No: 12
Chromosome Band: 12q23.2
Genetic Category: Rare single gene variant-Syndromic
Associated Syndrome(s): Phenylketonuria
Aliases: PH, PKU, PKU1
Chromosome No: 12
Chromosome Band: 12q23.2
Genetic Category: Rare single gene variant-Syndromic
Associated Syndrome(s): Phenylketonuria
Summary Statistics:
ASD Reports: 12
Recent Reports: 0
Annotated variants: 22
Associated CNVs: 2
Evidence score: 2
ASD Reports: 12
Recent Reports: 0
Annotated variants: 22
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Homozygous variants in the PAH gene were identified that segregated with ASD in two separate pedigrees (one multiplex, one simplex) consisting of affected children born to consanguineous parents (Yu et al., 2013).
Molecular Function
The PAH gene encodes the enzyme phenylalanine hydroxylase, which is the rate-limiting step in phenylalanine catabolism. Defects in PAH are the cause of phenylketonuria (PKU), non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA), and hyperphenylalaninemia (HPA) [MIM:261600].
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Using whole-exome sequencing to identify inherited causes of autism.
ASD
Support
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
ID
Autistic features
Support
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Epilepsy/seizures
Support
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Phenylketonuria
ID
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN527R002a
inframe_deletion
c.593_614del
p.Tyr198SerfsTer136
Familial
Both parents
Simplex
GEN527R003a
missense_variant
c.930C>T
p.Ser310Phe
Familial
Both parents
Simplex
GEN527R013
frameshift_variant
c.1055del
p.Gly352ValfsTer48
Familial
Maternal
Multiplex
Common
No Common Variants Available
