DDC

dopa decarboxylase
OMIM: 107930, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Amber DDC in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.12 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Infantile-onset parkinsonism & dystonia Bulbar dysfunction Oculogyric crisis Autonomic dysfunction Intellectual disability
Green DDC in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aromatic L-amino acid decarboxylase deficiency MIM# 608643
Green DDC in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Tags treatable clinical trial
Green DDC 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 Green Victorian Clinical Genetics Services Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Tags treatable clinical trial
Green DDC in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
Green DDC in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DDC in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DDC in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland
Green DDC in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.272 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 Dystonia Tags treatable clinical trial
Green DDC 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 Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
Green DDC in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency
Red DDC in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Green DDC in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aromatic L-amino acid decarboxylase deficiency 608643 Aromatic L-amino acid decarboxylase deficiency (MIM#608643)
Green DDC in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM#608643 Tags treatable clinical trial metabolic
Green DDC in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 (3)