LIPA

lipase A, lysosomal acid type
OMIM: 613497, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Amber LIPA in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 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 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LIPA in Mendeliome Version 2.0	1 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 2.0	1 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; Cardiovascular disorders Version 1.0	0 reviews	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000 Lysosomal acid lipase deficiency, MONDO:0010204
Green LIPA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	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 1.0	0 reviews	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 2.0	1 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 2.0	2 reviews	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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolman disease, MIM#620151 Cholesteryl ester storage disease, MIM#278000
Green LIPA in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	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 Level 2: Screening Version 1.0	0 reviews	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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolman disease, MIM#620151 Cholesteryl ester storage disease, MIM#278000
Green LIPA in Adrenal insufficiency Level 3: Adrenal disorders Level 2: Endocrine disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000 Lysosomal acid lipase deficiency, MONDO:0010204 Tags treatable