Genomics England
GMS Panels
Panels
Genes and Entities

LIPA

lipase A, lysosomal acid type
OMIM: 613497
PanelMode of inheritanceDetails
5 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 4.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
lysosomal acid lipase deficiency, Wolman disease, OMIM:278000, MONDO:0019148, Cholesteryl ester storage disease, OMIM:278000, MONDO:0019149, Neonatal and Adult Cholestasis, cholestasis
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal hydrops, Wolman disease, 278000, Lysosomal Acid Lipase Deficiency
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholesteryl ester storage disease
Green
in Lysosomal acid lipase deficiency
R-numbers: R325
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholesteryl ester storage disease, OMIM:278000, Wolman disease, OMIM:620151, Wolman disease, MONDO:0019148, cholesteryl ester storage disease, MONDO:0019149
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholesteryl ester storage disease OMIM:278000, Wolman disease OMIM:278000, lysosomal acid lipase deficiency MONDO:0010204