Familial hypercholesterolaemiaGene: LIPA
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
Lysosomal acid lipase deficiency
This gene has been classified as Green List (High Evidence).
Phenotypes for LIPA were set to Hypercholesterolemia; Lysosomal acid lipase deficiency
Mode of inheritance for LIPA was changed to BIALLELIC, autosomal or pseudoautosomal
LIPA was added to Familial hypercholesterolaemiapanel. Sources: Emory Genetics Laboratory