Hydrops fetalis
Gene: ANGPT2EnsemblGeneIds (GRCh38): ENSG00000091879
EnsemblGeneIds (GRCh37): ENSG00000091879
OMIM: 601922, Gene2Phenotype
ANGPT2 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mono-allelic disease: association with lymphoedema in 5 unrelated individuals PMID 32908006
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.
Sources: Expert listCreated: 2 Aug 2024, 7:19 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Lymphatic malformation-10, MIM#619369; Primary lymphoedema Hydrops
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Lymphatic malformation-10, MIM#619369
- Primary lymphoedema Hydrops
- OMIM
- 601922
- Clinvar variants
- Variants in ANGPT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: angpt2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: angpt2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ANGPT2 was added gene: ANGPT2 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: ANGPT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ANGPT2 were set to 32908006; 34876502 Phenotypes for gene: ANGPT2 were set to Lymphatic malformation-10, MIM#619369; Primary lymphoedema Hydrops Review for gene: ANGPT2 was set to GREEN