Fetal hydrops
Gene: ANGPT2
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
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
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
Five unrelated individuals reported with primary lymphedema and variants in this gene, together with functional data.
Sources: LiteratureCreated: 5 Oct 2020, 6:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary lymphoedema
Publications
Tag for-review was removed from gene: ANGPT2.
Gene: angpt2 has been classified as Amber List (Moderate Evidence).
Gene: angpt2 has been classified as Amber List (Moderate Evidence).
gene: ANGPT2 was added gene: ANGPT2 was added to Fetal hydrops. Sources: Expert Review Amber,Literature for-review tags were added to gene: ANGPT2. Mode of inheritance for gene: ANGPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANGPT2 were set to 32908006; 34876502 Phenotypes for gene: ANGPT2 were set to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662