Lymphoedema_nonsyndromic
Gene: ANGPT2
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: LiteratureCreated: 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
Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation-10, MIM#619369; Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops
Publications for gene: ANGPT2 were set to 32908006
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
Phenotypes for gene: ANGPT2 were changed from Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema
Publications for gene: ANGPT2 were set to https://stm.sciencemag.org/content/12/560/eaax8013
Gene: angpt2 has been classified as Green List (High Evidence).
Gene: angpt2 has been classified as Green List (High Evidence).
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