LIPA

lipase A, lysosomal acid type
OMIM: 613497, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red LIPA in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13

review Not set
Sources
  • Emory Genetics Laboratory

Green LIPA in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.24

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 1.55

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 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
  • Lysosomal acid lipase deficiency

Green LIPA in Cholestasis


Version 1.110
Latest signed off version: v1.21 (20 Aug 2020)

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


Version 1.78
Latest signed off version: v1.2 (18 Feb 2020)

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 1.542

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Cholesteryl ester storage disease 278000
  • Wolman disease 278000

Green LIPA in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Cholesteryl ester storage disease

    Green LIPA in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    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 or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green LIPA in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Wolman disease, 278000
    • Cholesteryl ester storage disease, 278000