Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: ANGPT2

Green List (high evidence)

ANGPT2 (angiopoietin 2)
EnsemblGeneIds (GRCh38): ENSG00000091879
EnsemblGeneIds (GRCh37): ENSG00000091879
OMIM: 601922, Gene2Phenotype
ANGPT2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: Literature
Created: 24 Jan 2022, 3:21 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Hydrops; Lymphatic malformation-10, MIM#619369

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
  • Literature
Phenotypes
  • Hydrops fetalis, MONDO:0015193
  • Lymphatic malformation-10, MIM#619369
OMIM
601922
Clinvar variants
Variants in ANGPT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: ANGPT2 were changed from Hydrops; Lymphatic malformation-10, MIM#619369 to Hydrops fetalis, MONDO:0015193; Lymphatic malformation-10, MIM#619369

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angpt2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angpt2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 1

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 Fetal anomalies. Sources: Literature 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 34876502; 32908006 Phenotypes for gene: ANGPT2 were set to Hydrops; Lymphatic malformation-10, MIM#619369 Review for gene: ANGPT2 was set to GREEN