NPC2

NPC intracellular cholesterol transporter 2
OMIM: 601015, ClinGen, DECIPHER

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green NPC2 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.54 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Niemann-pick disease, type C2 MIM#607625
Green NPC2 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.49 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann Pick C2, OMIM 607625 Parkinsonism
Green NPC2 in Cholestasis Level 2: Gastroenterological disorders Version 1.8 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-pick disease, type C2 MIM#607625
Red NPC2 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.328	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Niemann-pick disease, type C2, MIM# 607625
Green NPC2 in Incidentalome Version 0.402	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NPC2 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann-Pick disease, type C2 MIM#607625
Green NPC2 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.27 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-pick disease, type C2, MIM# 607625 MONDO:0011873
Green NPC2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.602	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NPC2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.638	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Niemann-pick disease, type C2, MIM# 607625 MONDO:0011873
Green NPC2 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.186 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Niemann-Pick disease type C2, 607625 Niemann-Pick disease type C2 (#607625)
Green NPC2 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 0.337 Component of the following Super Panels: Movement Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Niemann-Pick disease, type C2 MONDO:0011873 Dystonia
Amber NPC2 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 0.392 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert list Phenotypes Niemann-pick disease, type C2 607625
Green NPC2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-pick disease, type C2, 607625 (3)
Green NPC2 in Additional findings_Paediatric Level 2: Screening Version 0.280	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Niemann-Pick disease type C2
Amber NPC2 in Fetal anomalies Version 1.522	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert list Phenotypes Niemann-pick disease, type C2, MIM# 607625
Green NPC2 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-pick disease, type C2, MIM#607625
Green NPC2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Niemann-Pick disease type C2, MIM#607625 Tags treatable metabolic
Green NPC2 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-pick disease, type C2, MIM#607625