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Lymphoedema_nonsyndromic
Gene: ANGPT2

ANGPT2 (angiopoietin 2)
EnsemblGeneIds (GRCh38): ENSG00000091879
EnsemblGeneIds (GRCh37): ENSG00000091879
OMIM: 601922, Gene2Phenotype
ANGPT2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents.
Created: 24 Jan 2022, 3:25 a.m. | Last Modified: 24 Jan 2022, 3:25 a.m.

Panel Version: 0.26

Five unrelated individuals reported with primary lymphedema and variants in this gene, together with functional data.
Sources: Literature
Created: 10 Sep 2020, 7:22 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops

Publications

Created: 10 Sep 2020, 7:22 a.m.

Panel version: 0.26

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Lymphatic malformation-10, MIM#619369
Primary lymphoedema
Hydrops

OMIM

Clinvar variants

Variants in ANGPT2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation-10, MIM#619369; Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops

24 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANGPT2 were set to 32908006

24 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANGPT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

5 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANGPT2 were changed from Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema

5 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANGPT2 were set to https://stm.sciencemag.org/content/12/560/eaax8013

10 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angpt2 has been classified as Green List (High Evidence).

10 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angpt2 has been classified as Green List (High Evidence).

10 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANGPT2 was added gene: ANGPT2 was added to Lymphoedema_nonsyndromic. Sources: Literature Mode of inheritance for gene: ANGPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANGPT2 were set to https://stm.sciencemag.org/content/12/560/eaax8013 Phenotypes for gene: ANGPT2 were set to Primary lymphoedema Review for gene: ANGPT2 was set to GREEN