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Inborn errors of metabolism

Gene: LIPA

Green List (high evidence)

LIPA (lipase A, lysosomal acid type)
EnsemblGeneIds (GRCh38): ENSG00000107798
EnsemblGeneIds (GRCh37): ENSG00000107798
OMIM: 613497, Gene2Phenotype
LIPA is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 4 variants reported in at least 7 cases of Cholesteryl ester storage disease 278000, with or without Wolman disease and a further 3 variants reported in 3 cases of Wolman disease alone
Created: 16 Jan 2017, 4:58 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal hydrops

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cholesteryl ester storage disease
OMIM
613497
Clinvar variants
Variants in LIPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LIPA. Source London North GLH was added to LIPA.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LIPA was added gene: LIPA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPA were set to 27604308 Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease