Miscellaneous Metabolic Disorders
Gene: PAH
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
Tag treatable tag was added to gene: PAH.
Gene: pah has been classified as Green List (High Evidence).
Gene: pah has been classified as Green List (High Evidence).
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