HPD

4-hydroxyphenylpyruvate dioxygenase
OMIM: 609695, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green HPD in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hawkinsinuria (MIM#140350), AD Tyrosinemia type III (MIM#276710), AR
Green HPD in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green HPD in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tyrosinemia, type III, 276710 (3)
Red HPD in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Tyrosinemia, type III
Green HPD in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hawkinsinuria MIM#140350 Tyrosinemia, type III MIM#276710 Disorders of phenylalanine or tyrosine metabolism
Red HPD in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hawkinsinuria (MIM#140350), AD Tyrosinemia type III (MIM#276710), AR
Green HPD in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tyrosinemia, type III, 276710 (3)
Green HPD in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes tyrosinemia type III MONDO:0010162 hawkinsinuria MONDO:0007700
Red HPD in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene BeginNGS Phenotypes Tyrosinemia, type III Hawkinsinuria , MIM#140350 Tyrosinaemia, type III 276710
Green HPD in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tyrosinemia, type III, 276710 (3)