LIPA

lipase A, lysosomal acid type
OMIM: 613497, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Amber LIPA in Cholestasis Level 2: Gastroenterological disorders Version 0.240 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000
Green LIPA in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LIPA in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000 Lysosomal acid lipase deficiency, MONDO:0010204 Tags treatable
Green LIPA in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 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 Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000 Lysosomal acid lipase deficiency, MONDO:0010204 Tags treatable
Green LIPA in Dyslipidaemia Level 2: Endocrine disorders Version 0.41 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Wolman disease, Cholesterol ester storage disease
Green LIPA in Familial hypercholesterolaemia Level 2: Cardiovascular disorders Version 0.27	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services
Green LIPA 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 Cholesteryl ester storage disease, 278000 (3)
Green LIPA in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Wolman syndrome
Green LIPA in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000 Tags treatable
Green LIPA in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Wolman disease, 278000 Fetal hydrops Lysosomal Acid Lipase Deficiency
Green LIPA in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholesteryl ester storage disease, 278000 (3)
Green LIPA in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Wolman syndrome, MIM#278000 Tags treatable metabolic
Green LIPA in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wolman disease, Cholesterol ester storage disease
Green LIPA in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholesteryl ester storage disease, 278000 (3)