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Newborns main panel

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Wolman disease service team at the Manchester University NHS Foundation Trust should be involved at the variant review stage and will be able to assist with variant interpretation.
Created: 8 Jan 2026, 11:55 a.m. | Last Modified: 8 Jan 2026, 11:55 a.m.
Panel Version: 0.502
Special Consideration: Internal inclusion list plus LOF algorithm

Additional information: Only severe variants associated with Lysosomal acid lipase deficiency (aka Wolman disease) are included.
Created: 2 Jan 2026, 3:40 p.m. | Last Modified: 5 Jan 2026, 10:27 a.m.
Panel Version: 0.500
Created: 2 Jan 2026, 3:40 p.m.
Last Modified: 5 Jan 2026, 10:27 a.m.
Panel version: 0.502

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 30315827 - review of 120 variants
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lysosomal acid lipase deficiency
Tags
special_consideration internal_inclusion_list_only
OMIM
613497
Clinvar variants
Variants in LIPA
Penetrance
None
Panels with this gene

History Filter Activity

2 Jan 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: LIPA.

2 Jan 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: LIPA.

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to LIPA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LIPA. Added phenotypes Lysosomal acid lipase deficiency for gene: LIPA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to LIPA. Added phenotypes Lysosomal acid lipase deficiency for gene: LIPA Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LIPA. Added phenotypes Lysosomal acid lipase deficiency for gene: LIPA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to LIPA. Added phenotypes Lysosomal acid lipase deficiency for gene: LIPA Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: LIPA was added gene: LIPA was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPA were set to Lysosomal acid lipase deficiency