Dystonia - complex
Gene: PAH
PAH (phenylalanine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000171759
EnsemblGeneIds (GRCh37): ENSG00000171759
OMIM: 612349, Gene2Phenotype
PAH is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000171759
EnsemblGeneIds (GRCh37): ENSG00000171759
OMIM: 612349, Gene2Phenotype
PAH is in 12 panels
1 review
Natalie Lim (Other)
Reports of parkinsonism and dystonia have been documented as delayed manifestations amongst PKU patients although rare.
Sources: Expert ReviewCreated: 5 Mar 2024, 10:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria MIM#261600
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Phenylketonuria MIM#261600
- OMIM
- 612349
- Clinvar variants
- Variants in PAH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Aminoacidopathy
- Additional findings_Paediatric
- Prepair 1000+
- Dystonia - complex
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
5 Mar 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Natalie Lim (Other)gene: PAH was added gene: PAH was added to Dystonia - complex. Sources: Expert Review Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to PMID: 25614310, PMID: 15390012, PMID: 30369906 Phenotypes for gene: PAH were set to Phenylketonuria MIM#261600 Review for gene: PAH was set to GREEN