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Genetic Epilepsy

Gene: PAH

Green List (high evidence)

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seizures if untreated. Part of NBS.
Created: 5 Oct 2022, 4:19 a.m. | Last Modified: 5 Oct 2022, 4:19 a.m.
Panel Version: 0.1672

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phenylketonuria, MIM#261600

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF proven (OMIM)
Created: 29 May 2020, 3:59 a.m. | Last Modified: 29 May 2020, 3:59 a.m.
Panel Version: 0.2926

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phenylketonuria 261600; [Hyperphenylalaninemia, non-PKU mild] 261600

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Phenylketonuria, MIM#261600
Tags
treatable
OMIM
612349
Clinvar variants
Variants in PAH
Penetrance
None
Panels with this gene

History Filter Activity

5 Oct 2022, 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).

5 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAH were changed from Phenylketonuria, MIM#261600 to Phenylketonuria, MIM#261600

5 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAH were changed from to Phenylketonuria, MIM#261600

5 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PAH.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAH was added gene: PAH was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAH was set to Unknown