Fetal hydrops

Gene: LIPA

Green List (high evidence)

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)

LIPA is on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre:http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdf, and Wolman disease is reported in the literature as one of the lysosomal storage disorders with a link to NIHF (non-immune fetal hydrops). >3 reports in OMIM of LIPA mutations contributing to Wolman disease.
Created: 21 Dec 2016, 11:47 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Other
Phenotypes
  • Wolman disease, 278000
  • Lysosomal Acid Lipase Deficiency
OMIM
613497
Clinvar variants
Variants in LIPA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

21 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

LIPA was created by rfoulger

21 Dec 2016, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

LIPA was added to Fetal hydropspanel. Sources: Literature, Other, Expert Review Green