1. Panels
  2. Lysosomal acid lipase deficiency
  3. LIPA
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Lysosomal acid lipase deficiency

Gene: LIPA

Green List (high evidence)
LIPA (lipase A, lysosomal acid type)
EnsemblGeneIds (GRCh38): ENSG00000107798
EnsemblGeneIds (GRCh37): ENSG00000107798
OMIM: 613497, Gene2Phenotype
LIPA is in 11 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #278000 & #620151) and the OMIM records were last accessed on 20 December 2025.
Created: 20 Dec 2025, 7:22 p.m. | Last Modified: 20 Dec 2025, 7:22 p.m.
Panel Version: 1.2
LIPA has been added to the panel for R325 Lysosomal acid lipase deficiency with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 2:27 p.m. | Last Modified: 30 Jun 2023, 2:27 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2023, 2:27 p.m.
Last Modified: 30 Jun 2023, 2:27 p.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cholesteryl ester storage disease, OMIM:278000
  • Wolman disease, OMIM:620151
  • Wolman disease, MONDO:0019148
  • cholesteryl ester storage disease, MONDO:0019149
OMIM
613497
Clinvar variants
Variants in LIPA
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, OMIM:278000; Wolman disease, OMIM:620151; Wolman disease, MONDO:0019148; cholesteryl ester storage disease, MONDO:0019149

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: LIPA was added gene: LIPA was added to Lysosomal acid lipase deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal