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  2. Intestinal failure or congenital diarrhoea
  3. ANGPTL3
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Intestinal failure or congenital diarrhoea

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

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Many cases reported of variants in ANGPTL3 in patients with Hypobetalipoproteinemia. GMS will add a review relating to the relevant phenotype.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Created: 8 Mar 2022, 11:44 a.m.
Last Modified: 8 Mar 2022, 11:44 a.m.
Panel version: 1.48

Details

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

History Filter Activity

8 Mar 2022, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: ANGPTL3 was added gene: ANGPTL3 was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: ANGPTL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANGPTL3 were set to Hypobetalipoproteinemia, familial, 2, OMIM:605019