PCBD1

pterin-4 alpha-carbinolamine dehydratase 1
OMIM: 126090, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PCBD1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Amber PCBD1 in Neurotransmitter Defects Level 2: Neurology and neurodevelopmental disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Red PCBD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM#264070
Green PCBD1 in Maturity-onset Diabetes of the Young Level 2: Endocrine disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes MODY
Green PCBD1 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Green PCBD1 in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009908
Green PCBD1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Tags treatable metabolic
Green PCBD1 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070