Fetal hydrops

Gene: ANGPT2

Green List (high evidence)

Four fetuses with severe early-onset non-immune hydrops fetalis and homozygosity for a loss-of-function (LOF) variant in ANGPT2 (PMID: 34876502).

Created: 11 Apr 2024, 3:34 p.m. | Last Modified: 11 Apr 2024, 3:34 p.m.

Panel Version: 1.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrops fetalis

Publications

• PMID: 34876502

Green List (high evidence)

Comment on list classification: One biallelic variant in four sibblings in a single family with severe early-onset non-immune hydrops fetalis (pmid 34876502).

Created: 9 Dec 2021, 1:41 p.m. | Last Modified: 9 Dec 2021, 1:41 p.m.

Panel Version: 1.45

Comment on list classification: One biallelic variant in four sibblings in a single family with severe early-onset non-immune hydrops fetalis (pmid 34876502).

Created: 9 Dec 2021, 1:41 p.m. | Last Modified: 9 Dec 2021, 1:41 p.m.

Panel Version: 1.45

PMID 34876502 reports four fetuses with hydrops fetalis were homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguiseious 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: 9 Dec 2021, 1:38 p.m. | Last Modified: 9 Dec 2021, 1:38 p.m.

Panel Version: 2.23

Comment on phenotypes: Biallelic variants reported in severe early-onset non-immune hydrops fetalis (PMID 34876502).

Created: 9 Dec 2021, 12:05 p.m. | Last Modified: 9 Dec 2021, 12:05 p.m.

Panel Version: 2.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe early-onset non-immune hydrops fetalis

Publications

• 34876502

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

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

• 32908006