Miscellaneous Metabolic Disorders

Gene: PAH

Green List (high evidence)

PAH (phenylalanine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000171759
EnsemblGeneIds (GRCh37): ENSG00000171759
OMIM: 612349, Gene2Phenotype
PAH is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 GMS
Created: 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
treatable
OMIM
612349
Clinvar variants
Variants in PAH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PAH.

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pah has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pah has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 1

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