Familial hypercholesterolaemia

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

2 reviews

Ellen Thomas (Genomics England)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on additional reports in three unrelated cases
Created: 1 Jun 2017, 10:57 a.m.
Biallelic variants reported in 4 children (from 3 families) referred to the Portuguese FH Study, all with a clinical diagnosis of FH. Mild liver dysfunction was present at the age of FH diagnosis (PMID 28502505).
Created: 1 Jun 2017, 10:55 a.m.
Quote from publication "Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. FH cohorts should be investigated to identify possible LALD patients, who will need appropriate treatment. These results highlight the importance of correctly identifying the etiology of the dyslipidemia."
Created: 13 Apr 2017, 2:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lysosomal acid lipase deficiency

Publications

  • http://doi.org/10.1016/j.jacl.2016.11.002
  • 28502505

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
  • Lysosomal acid lipase deficiency
OMIM
613497
Clinvar variants
Variants in LIPA
Penetrance
Complete
Panels with this gene

History Filter Activity

1 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Apr 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LIPA were set to Hypercholesterolemia; Lysosomal acid lipase deficiency

13 Apr 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for LIPA was changed to BIALLELIC, autosomal or pseudoautosomal

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LIPA was added to Familial hypercholesterolaemiapanel. Sources: Emory Genetics Laboratory