Fetal anomalies
Gene: LIPA

LIPA (lipase A, lysosomal acid type)
EnsemblGeneIds (GRCh38): ENSG00000107798
EnsemblGeneIds (GRCh37): ENSG00000107798
OMIM: 613497, Gene2Phenotype
LIPA is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Added to panel on March 11th 2019 based on Green rating on 'Fetal hydrops' panel (V.16). Lyn Chitty (Great Ormond Street) confirmed that this gene should be included on the Fetal anomalies panel.
Created: 11 Mar 2019, 9:08 p.m.

Created: 11 Mar 2019, 9:08 p.m.

Panel version: 0.124

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Fetal hydrops
Wolman disease, 278000
Lysosomal Acid Lipase Deficiency

OMIM

613497

Clinvar variants

Variants in LIPA

Penetrance

None

Publications

12666227

Panels with this gene

History Filter Activity

11 Mar 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: LIPA was added gene: LIPA was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPA were set to 12666227 Phenotypes for gene: LIPA were set to Fetal hydrops; Wolman disease, 278000; Lysosomal Acid Lipase Deficiency

Fetal anomalies Gene: LIPA