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Mendeliome

Gene: LPL

Green List (high evidence)

LPL (lipoprotein lipase)
EnsemblGeneIds (GRCh38): ENSG00000175445
EnsemblGeneIds (GRCh37): ENSG00000175445
OMIM: 609708, Gene2Phenotype
LPL is in 8 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Combined hyperlipidemia, familial, MIM# 144250; Lipoprotein lipase deficiency, MIM# 238600

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined hyperlipidemia, familial, MIM# 144250
  • Lipoprotein lipase deficiency, MIM# 238600
OMIM
609708
Clinvar variants
Variants in LPL
Penetrance
None
Panels with this gene

History Filter Activity

9 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: lpl has been classified as Green List (High Evidence).

9 May 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: LPL were changed from to Combined hyperlipidemia, familial, MIM# 144250; Lipoprotein lipase deficiency, MIM# 238600

9 May 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: LPL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LPL was added gene: LPL was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LPL was set to Unknown