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  3. LIPA
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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe perinatal disorder, detectable prenatally.
Created: 8 Nov 2021, 8:56 a.m. | Last Modified: 8 Nov 2021, 8:56 a.m.
Panel Version: 0.254

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolman disease, MIM# 278000

Created: 8 Nov 2021, 8:56 a.m.
Last Modified: 8 Nov 2021, 8:56 a.m.
Panel version: 0.254

Daniel Flanagan (Victorian Clinical Genetics Services)

I don't know

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.
Created: 8 Nov 2021, 2:24 a.m. | Last Modified: 8 Nov 2021, 2:24 a.m.
Panel Version: 0.158

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 8 Nov 2021, 2:24 a.m.
Last Modified: 8 Nov 2021, 2:24 a.m.
Panel version: 0.158

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Wolman disease, 278000
  • Fetal hydrops
  • Lysosomal Acid Lipase Deficiency
OMIM
613497
Clinvar variants
Variants in LIPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, 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).

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LIPA were set to 12666227

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPA were set to 12666227 Phenotypes for gene: LIPA were set to Wolman disease, 278000; Fetal hydrops; Lysosomal Acid Lipase Deficiency