Likely inborn error of metabolism
Gene: ANGPTL3

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

1 review

Nicole Gossan (North West GLH)

Green List (high evidence)

ANGPTL3 is associated with autosomal recessive familial hypobetalipoproteinemia 2 (OMIM#605019). Clingen gene-disease validity is Definitive (reviewed 21/11/2022) and this gene is included on another GMS panel (R331).

Other genetic causes of hypobetalipoproteinemia are included on R98 - suggest adding ANGPTL3 to the panel.
Sources: NHS GMS
Created: 5 Nov 2026, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial Hypobetalipoproteinemia 2 (OMIM#605019)

Created: 5 Nov 2026, 4:11 p.m.

Panel version: 9.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Familial Hypobetalipoproteinemia 2 (OMIM#605019)

OMIM

604774

Clinvar variants

Variants in ANGPTL3

Penetrance

None

Panels with this gene

History Filter Activity

5 Nov 2026, Gel status: 0

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

Nicole Gossan (North West GLH)

gene: ANGPTL3 was added gene: ANGPTL3 was added to Likely inborn error of metabolism. Sources: NHS GMS Mode of inheritance for gene: ANGPTL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANGPTL3 were set to Familial Hypobetalipoproteinemia 2 (OMIM#605019) Review for gene: ANGPTL3 was set to GREEN

Likely inborn error of metabolism Gene: ANGPTL3