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Newborns main panel

Gene: PAH

Green List (high evidence)
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: 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: 26 Sep 2024, 3:55 p.m.
Panel version: 0.469

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

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Phenylketonuria for gene: PAH

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Phenylketonuria for gene: PAH

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Phenylketonuria for gene: PAH

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Phenylketonuria for gene: PAH

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Phenylketonuria for gene: PAH

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PAH was added gene: PAH was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal