Primary lymphoedema
Gene: ANGPT2EnsemblGeneIds (GRCh38): ENSG00000091879
EnsemblGeneIds (GRCh37): ENSG00000091879
OMIM: 601922, Gene2Phenotype
ANGPT2 is in 4 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Lymphatic malformation 10 OMIM:619369
- lymphatic malformation 10 MONDO:0023662
- OMIM
- 601922
- Clinvar variants
- Variants in ANGPT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: ANGPT2.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ANGPT2 were set to 32908006
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ANGPT2 were changed from Primary lymphoedema to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: ANGPT2.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: angpt2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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