PAH

phenylalanine hydroxylase
OMIM: 612349, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green PAH in Mendeliome Version 1.3512	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Phenylketonuria MIM#261600 Disorders of phenylalanine or tyrosine metabolism Tags treatable
Green PAH in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	3 reviews	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
Green PAH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Phenylketonuria, MIM#261600 Tags treatable
Green PAH in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.288 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Phenylketonuria MIM#261600
Green PAH in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.151 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600 Tags treatable
Green PAH in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Phenylketonuria, 261600 (3)
Green PAH in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Phenylketonuria
Green PAH in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.57 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Phenylketonuria MIM#261600 Disorders of phenylalanine or tyrosine metabolism Tags treatable
Green PAH in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Phenylketonuria, MIM#261600
Green PAH in Aminoacidopathy Level 2: Metabolic disorders Version 1.137 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes phenylketonuria MONDO:0009861
Green PAH in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Phenylketonuria, MIM#261600 Tags treatable metabolic
Green PAH in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Phenylketonuria, MIM#261600
Red PAH in Genomic newborn screening: ICoNS Level 2: Screening Version 0.16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Phenylketonuria MIM#261600