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Mendeliome

Gene: ANGPTL8

Red List (low evidence)

ANGPTL8 (angiopoietin like 8)
EnsemblGeneIds (GRCh38): ENSG00000130173
EnsemblGeneIds (GRCh37): ENSG00000130173
OMIM: 616223, Gene2Phenotype
ANGPTL8 is in 1 panel

1 review

Dean Phelan (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 33909604 - Population studies showed PTV are associated with both lipid levels and coronary artery disease.
Sources: Literature
Created: 7 Jun 2021, 5:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Low serum triglycerides; Coronary artery disease

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Low serum triglycerides
  • Coronary artery disease
OMIM
616223
Clinvar variants
Variants in ANGPTL8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angptl8 has been classified as Red List (Low Evidence).

11 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angptl8 has been classified as Red List (Low Evidence).

7 Jun 2021, Gel status: 0

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

Dean Phelan (Victorian Clinical Genetics Services)

gene: ANGPTL8 was added gene: ANGPTL8 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ANGPTL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANGPTL8 were set to PMID: 33909604 Phenotypes for gene: ANGPTL8 were set to Low serum triglycerides; Coronary artery disease Review for gene: ANGPTL8 was set to RED