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  2. Liver Failure_Paediatric
  3. LIPA
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Liver Failure_Paediatric

Gene: LIPA

Green List (high evidence)
LIPA (lipase A, lysosomal acid type)
EnsemblGeneIds (GRCh38): ENSG00000107798
EnsemblGeneIds (GRCh37): ENSG00000107798
OMIM: 613497, Gene2Phenotype
LIPA is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Liver failure can be of early onset and rapidly progressive or more chronic.
Sources: Expert list
Created: 1 Nov 2020, 6:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000

Publications

Created: 1 Nov 2020, 6:52 a.m.

Panel version: 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholesteryl ester storage disease, MIM# 278000
  • Wolman disease, MIM# 278000
Tags
treatable
OMIM
613497
Clinvar variants
Variants in LIPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: LIPA.

1 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lipa has been classified as Green List (High Evidence).

1 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lipa has been classified as Green List (High Evidence).

1 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIPA was added gene: LIPA was added to Acute Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPA were set to 8617513; 21963785 Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000 Review for gene: LIPA was set to GREEN