Transplant Co-Morbidity Superpanel
Gene: LIPA
LIPA (lipase A, lysosomal acid type)
EnsemblGeneIds (GRCh38): ENSG00000107798
EnsemblGeneIds (GRCh37): ENSG00000107798
OMIM: 613497, Gene2Phenotype
LIPA is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000107798
EnsemblGeneIds (GRCh37): ENSG00000107798
OMIM: 613497, Gene2Phenotype
LIPA is in 14 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Wolman disease, Cholesterol ester storage disease
- OMIM
- 613497
- Clinvar variants
- Variants in LIPA
- Penetrance
- None
- Panels with this gene
-
- Dyslipidaemia
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Liver Failure_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Prepair 500+
- Transplant Co-Morbidity Superpanel
- Familial hypercholesterolaemia
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: LIPA was added gene: LIPA was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPA were set to Wolman disease, Cholesterol ester storage disease