NPC1

NPC intracellular cholesterol transporter 1
OMIM: 607623, Gene2Phenotype

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Red NPC1 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Amber NPC1 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Niemann_Pick type C disease Niemann-Pick disease, type D
Green NPC1 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services UKGTN Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis Niemann-Pick disease type C1, 257220 Niemann-Pick disease, type D, 257220
Green NPC1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Literature Expert Review Green Phenotypes Niemann-Pick disease, type C1, 257220 Niemann-Pick disease, type C NPC1
Amber NPC1 in COVID-19 research Level 2: Viral research Version 1.146	review	Unknown	Sources Expert Review Amber OMIM Expert list
Green NPC1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Niemann-Pick disease types C1 and D (#257220)
Green NPC1 in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Niemann-Pick disease, type D, 257220 Niemann-Pick disease type C1, 257220 Neonatal and Adult Cholestasis
Green NPC1 in Lysosomal storage disorder Level 2: Metabolic Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green North London GLH Phenotypes Niemann-Pick disease, type D OMIM:257220 Niemann-Pick disease, type C1 OMIM:257220 Niemann-Pick disease, type C1 MONDO:0009757
Amber NPC1 in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Niemann-Pick disease, type C1/D 257220 Tags watchlist
Green NPC1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Niemann-Pick disease types C1 and D (#257220)
Green NPC1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Very Early Onset Inflammatory Bowel Disease
Green NPC1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Niemann-Pick disease, type C1, OMIM:257220 Niemann-Pick disease, type D, OMIM:257220
Green NPC1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Literature Phenotypes Niemann-Pick disease, type C1 257220 Niemann-Pick disease, type D 257220
Green NPC1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Niemann-Pick disease, type C1
Green NPC1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C1
Green NPC1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C1 257220
Green NPC1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C1
Green NPC1 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Niemann-Pick disease type C1, 257220 Niemann-Pick disease types C1 and D (#257220)
Green NPC1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Niemann-Pick disease, type C1, 257220 Niemann-Pick disease, type D, 257220
Green NPC1 in Niemann Pick disease type C Level 2: Metabolic Version 1.4 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Niemann-Pick disease, type C1, OMIM:257220 Niemann-Pick disease, type D, OMIM:257220 Niemann-Pick disease, type C1, MONDO:0009757

NPC1

20 panels

Red NPC1 in Hyperammonaemia

Sources

Amber NPC1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Sources

Phenotypes

Green NPC1 in Neonatal cholestasis

Sources

Phenotypes

Green NPC1 in Fetal hydrops

Sources

Phenotypes

Amber NPC1 in COVID-19 research

Sources

Green NPC1 in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green NPC1 in Cholestasis

Sources

Phenotypes

Green NPC1 in Lysosomal storage disorder

Sources

Phenotypes

Amber NPC1 in Adult onset leukodystrophy

Sources

Phenotypes

Tags

Green NPC1 in Hereditary ataxia

Sources

Phenotypes

Green NPC1 in Primary immunodeficiency or monogenic inflammatory bowel disease

Sources

Phenotypes

Green NPC1 in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green NPC1 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green NPC1 in Likely inborn error of metabolism

Sources

Phenotypes

Green NPC1 in Fetal anomalies

Sources

Phenotypes

Green NPC1 in DDG2P

Sources

Phenotypes

Green NPC1 in Intellectual disability

Sources

Phenotypes

Green NPC1 in Hereditary ataxia with onset in adulthood

Sources

Phenotypes

Green NPC1 in Childhood onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Green NPC1 in Niemann Pick disease type C

Sources

Phenotypes