LIPA

lipase A, lysosomal acid type
OMIM: 613497, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red LIPA in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green LIPA 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 Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis lysosomal acid lipase deficiency cholestasis Cholesteryl ester storage disease 278000 Wolman disease 278000
Green LIPA in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Green Literature Phenotypes Wolman disease, 278000 Lysosomal Acid Lipase Deficiency
Green LIPA in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Hypercholesterolemia Lysosomal acid lipase deficiency
Green LIPA 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 Expert list Phenotypes lysosomal acid lipase deficiency Wolman disease, OMIM:278000, MONDO:0019148 Cholesteryl ester storage disease, OMIM:278000, MONDO:0019149 Neonatal and Adult Cholestasis cholestasis
Green LIPA 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 Cholesteryl ester storage disease OMIM:278000 Wolman disease OMIM:278000 lysosomal acid lipase deficiency MONDO:0010204
Green LIPA 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 Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Cholesteryl ester storage disease 278000 Wolman disease 278000
Green LIPA 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 Cholesteryl ester storage disease
Green LIPA 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 Expert Review Green Phenotypes Fetal hydrops Wolman disease, 278000 Lysosomal Acid Lipase Deficiency
Red LIPA 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	Not set	Sources Expert Review Red London North GLH
Green LIPA in Lysosomal acid lipase deficiency Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Cholesteryl ester storage disease, OMIM:278000 Wolman disease, OMIM:620151 Wolman disease, MONDO:0019148 cholesteryl ester storage disease, MONDO:0019149