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  3. PAH
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Phenylketonuria

Gene: PAH

Green List (high evidence)
PAH (phenylalanine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000171759
EnsemblGeneIds (GRCh37): ENSG00000171759
OMIM: 612349, Gene2Phenotype
PAH is in 9 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #261600) and the OMIM record was last accessed on 29 December 2025.
Created: 29 Dec 2025, 11:37 a.m. | Last Modified: 29 Dec 2025, 11:37 a.m.
Panel Version: 1.2
PAH has been added to the panel for R283 Phenylketonuria with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 3:21 p.m. | Last Modified: 30 Jun 2023, 3:21 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2023, 3:21 p.m.
Last Modified: 30 Jun 2023, 3:21 p.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Phenylketonuria, OMIM:261600
  • phenylketonuria, MONDO:0009861
OMIM
612349
Clinvar variants
Variants in PAH
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PAH were changed from to Phenylketonuria, OMIM:261600; phenylketonuria, MONDO:0009861

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PAH was added gene: PAH was added to Phenylketonuria. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal