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  3. ANGPTL3
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Dyslipidaemia

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established inborn error of lipoprotein metabolism
Sources: Expert list
Created: 20 May 2024, 1:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypobetalipoproteinemia, familial, 2 MIM#605019

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 May 2024, 1:29 a.m.

Panel version: 0.38

Details

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

History Filter Activity

20 May 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 May 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ANGPTL3 was added gene: ANGPTL3 was added to Dyslipidaemia. Sources: Expert list Mode of inheritance for gene: ANGPTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANGPTL3 were set to 23150577; 20942659; 22155345; 22062970 Phenotypes for gene: ANGPTL3 were set to Hypobetalipoproteinemia, familial, 2 MIM#605019 Review for gene: ANGPTL3 was set to GREEN gene: ANGPTL3 was marked as current diagnostic