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Prepair 1000+

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

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 28374935. Third-trimester sonographic examination demonstrated fetal hepatomegaly and bilateral adrenal echogenicity suggestive of diffuse calcification. Wolman disease confirmed postnatal by biochemical and genetics testing.

Well established gene-disease association. Severity is related to extent of enzyme deficiency.

Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood.

Severe perinatal disorder, detectable prenatally.

Liver failure can be of early onset and rapidly progressive or more chronic.
Created: 12 Mar 2025, 5:54 a.m. | Last Modified: 12 Mar 2025, 5:54 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolman disease, MIM#620151; Cholesteryl ester storage disease, MIM#278000

Publications

Details

History Filter Activity

13 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

13 Mar 2025, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease, 278000 (3) to Wolman disease, MIM#620151; Cholesteryl ester storage disease, MIM#278000

13 Mar 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: LIPA were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Cholesteryl ester storage disease, 278000 (3) for gene: LIPA

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIPA was added gene: LIPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3)