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  3. PAH
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well-established gene-disease association. Affected individuals reported to have an inborn error of phenylalanine metabolism. LoF is the established mechanism of disease (PMID:1301187).

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 24/04/2020
https://search.clinicalgenome.org/CCID:005722
Sources: ClinGen
Created: 9 Jul 2024, 1:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
phenylketonuria MONDO:0009861

Publications

Created: 9 Jul 2024, 1:10 a.m.

Panel version: 1.66

History Filter Activity

16 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Jul 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: PAH was added gene: PAH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to 1301187, 13138177 Phenotypes for gene: PAH were set to phenylketonuria MONDO:0009861 Review for gene: PAH was set to GREEN