Miscellaneous Metabolic Disorders
Gene: PAHEnsemblGeneIds (GRCh38): ENSG00000171759
EnsemblGeneIds (GRCh37): ENSG00000171759
OMIM: 612349, Gene2Phenotype
PAH is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry). Phenylketonuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of phenylalanine metabolism.
Sources: NHS GMSCreated: 7 Feb 2021, 11:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria MIM#261600; Disorders of phenylalanine or tyrosine metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Phenylketonuria MIM#261600
- Disorders of phenylalanine or tyrosine metabolism
- Tags
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: PAH.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pah has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pah has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PAH was added gene: PAH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to 27604308; 3008810 Phenotypes for gene: PAH were set to Phenylketonuria MIM#261600; Disorders of phenylalanine or tyrosine metabolism Review for gene: PAH was set to GREEN gene: PAH was marked as current diagnostic