PANK2

pantothenate kinase 2
OMIM: 606157, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green PANK2 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.32 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 1 (MIM#234200)
Green PANK2 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 Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes pantothenate kinase-associated neurodegeneration MONDO:0009319
Amber PANK2 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.99 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration with brain iron accumulation 1, MIM# 234200
Green PANK2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes HARP syndrome ( OMIM 607236) Neurodegeneration with brain iron accumulation 1 (OMIM 234200)
Green PANK2 in Incidentalome Version 0.314	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red PANK2 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 Red Literature Phenotypes Neurodegeneration with brain iron accumulation 1 MIM#234200
Green PANK2 in Mitochondrial disease Level 2: Metabolic disorders Version 0.970 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes HARP syndrome MIM#607236 Neurodegeneration with brain iron accumulation 1 MIM#234200
Green PANK2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red PANK2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Neurodegeneration with brain iron accumulation 1, MIM#234200
Green PANK2 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 pantothenate kinase-associated neurodegeneration MONDO:0009319 Dystonia
Green PANK2 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.219 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources RetNet Expert Review Green Phenotypes HARP syndrome Neurodegeneration with brain iron accumulation 1
Green PANK2 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 Neurodegeneration with brain iron accumulation 1, 234200 (3)
Green PANK2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 1
Green PANK2 in Neurodegeneration with brain iron accumulation Level 2: Neurology and neurodevelopmental disorders Version 1.0 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Phenotypes Pantothenate kinase-associated neurodegeneration (PKAN)
Green PANK2 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodegeneration with brain iron accumulation 1, MIM#234200
Red PANK2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200
Green PANK2 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodegeneration with brain iron accumulation 1, MIM#234200
Green PANK2 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pantothenate kinase-associated neurodegeneration MONDO:0009319 Disorders of pantothenate and CoA metabolism