Newborns main panel
Gene: PAH

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Variant report wording.

Additional Information: When one or both PAH variants have been seen in cases with phenylketonuria (which needs treatment) and benign hyperphenylanalaemia (which does not need treatment), the Generation Study molecular report should state “the ___ variant has been associated with cases of phenylketonuria and benign hyperphenylanalaemia”.
Created: 29 Apr 2026, 1:55 p.m. | Last Modified: 29 Apr 2026, 1:55 p.m.

Panel Version: 0.508

Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Phenylketonuria Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50015/
Created: 26 Sep 2024, 3:55 p.m. | Last Modified: 26 Sep 2024, 3:55 p.m.

Panel Version: 0.469

Created: 26 Sep 2024, 3:55 p.m.
Last Modified: 29 Apr 2026, 1:55 p.m.
Panel version: 0.508

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.

Panel Version: 0.137

https://search.clinicalgenome.org/kb/genes/HGNC:8582
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

PAH-related disorder

Tags

special_consideration

OMIM

612349

Clinvar variants

Variants in PAH

Penetrance

None

Panels with this gene

History Filter Activity

5 Jan 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PAH were changed from Phenylketonuria to PAH-related disorder

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: PAH.

16 Jul 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration was removed from gene: PAH.

16 Jul 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: PAH.

14 Sep 2023, Gel status: 3