Primary lymphoedema

Gene: ANGPT2

Amber List (moderate evidence)

ANGPT2 (angiopoietin 2)
EnsemblGeneIds (GRCh38): ENSG00000091879
EnsemblGeneIds (GRCh37): ENSG00000091879
OMIM: 601922, Gene2Phenotype
ANGPT2 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. There is enough evidence for this gene to be rated Green, which will occur at the next major review/update.
Created: 5 Oct 2020, 1:22 p.m. | Last Modified: 5 Oct 2020, 1:22 p.m.
Panel Version: 2.6

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five unrelated individuals reported with primary lymphedema and variants in this gene, together with functional data.
Sources: Literature
Created: 5 Oct 2020, 6:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary lymphoedema

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Primary lymphoedema
Tags
for-review
OMIM
601922
Clinvar variants
Variants in ANGPT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: ANGPT2.

5 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: angpt2 has been classified as Amber List (Moderate Evidence).

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ANGPT2 was added gene: ANGPT2 was added to Primary lymphoedema. Sources: Literature Mode of inheritance for gene: ANGPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANGPT2 were set to 32908006 Phenotypes for gene: ANGPT2 were set to Primary lymphoedema Review for gene: ANGPT2 was set to GREEN