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Mendeliome

Gene: ANGPTL3

Green List (high evidence)

ANGPTL3 (angiopoietin like 3)
EnsemblGeneIds (GRCh38): ENSG00000132855
EnsemblGeneIds (GRCh37): ENSG00000132855
OMIM: 604774, Gene2Phenotype
ANGPTL3 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 23150577 - K/O mice showed LACK of hypertriglyceridemia, increased LPL activity, 50% reductions in HDL and heparin-releasable phospholipase activity

gnomAD - no hom PTCs

PMID: 20942659 - family (4 affected) with chet (2x PTCs) variants w/ familial combined hypolipidemia

PMID: 22155345 - 2 unrelated Spanish families with the same hom fs w/ amilial hypobetalipoproteinemia

PMID: 22062970 - 3 families with chet/hom PTCs and familial combined hypolipidemia
Created: 4 Apr 2022, 6:20 a.m. | Last Modified: 4 Apr 2022, 6:20 a.m.
Panel Version: 0.12536

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypobetalipoproteinemia, familial, 2 MIM#605019

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypobetalipoproteinemia, familial, 2 MIM#605019
OMIM
604774
Clinvar variants
Variants in ANGPTL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: angptl3 has been classified as Green List (High Evidence).

4 Apr 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ANGPTL3 were changed from to Hypobetalipoproteinemia, familial, 2 MIM#605019

4 Apr 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: ANGPTL3 were set to

4 Apr 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: ANGPTL3 was changed from Unknown to BIALLELIC, 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: ANGPTL3 was added gene: ANGPTL3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANGPTL3 was set to Unknown