Primary lymphoedema
Gene: ANGPT2
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
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 3 Mar 2022, 11:55 a.m. | Last Modified: 3 Mar 2022, 11:55 a.m.
Panel Version: 2.24
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.
Publications for gene: ANGPT2 were set to 32908006
Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662
Phenotypes for gene: ANGPT2 were changed from Primary lymphoedema to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662
Tag for-review tag was added to gene: ANGPT2.
Gene: angpt2 has been classified as Amber List (Moderate Evidence).
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