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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 12 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

History Filter Activity

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