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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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Clear evidence of post natal lymphoedema with one family 4 hydropic fetuses. Green.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

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

Phenotypes
Hydrops fetalis, MONDO:0015193; Lymphatic malformation-10, MIM#619369

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.192

Irina Adamena (Children's Clinical University Hospital)

Green List (high evidence)

Four fetuses with severe early-onset non-immune hydrops fetalis and homozygosity for a loss-of-function (LOF) variant in ANGPT2 (PMID: 34876502).
Created: 11 Apr 2024, 3:34 p.m. | Last Modified: 11 Apr 2024, 3:34 p.m.
Panel Version: 1.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrops fetalis

Publications

Created: 11 Apr 2024, 3:34 p.m.
Last Modified: 11 Apr 2024, 3:34 p.m.
Copied from panel: Fetal hydrops v1.67

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: One biallelic variant in four sibblings in a single family with severe early-onset non-immune hydrops fetalis (pmid 34876502).
Created: 9 Dec 2021, 1:41 p.m. | Last Modified: 9 Dec 2021, 1:41 p.m.
Panel Version: 1.45
Comment on list classification: One biallelic variant in four sibblings in a single family with severe early-onset non-immune hydrops fetalis (pmid 34876502).
Created: 9 Dec 2021, 1:41 p.m. | Last Modified: 9 Dec 2021, 1:41 p.m.
Panel Version: 1.45
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

Created: 9 Dec 2021, 12:05 p.m.
Last Modified: 9 Dec 2021, 12:05 p.m.
Copied from panel: Fetal hydrops v1.67, Primary lymphoedema v2.23

Ivone Leong (Genomics England Curator)

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
Created: 5 Oct 2020, 1:22 p.m.
Last Modified: 5 Oct 2020, 1:22 p.m.
Copied from panel: Fetal hydrops v1.67, Primary lymphoedema v2.23

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five unrelated individuals reported with primary lymphedema and variants in this gene, together with functional data.
Sources: Literature
Created: 5 Oct 2020, 6:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary lymphoedema

Publications

Created: 5 Oct 2020, 6:53 a.m.

Copied from panel: Fetal hydrops v1.67, Primary lymphoedema v2.23

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • hydrops fetalis, MONDO:0015193
  • 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

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: ANGPT2. Tag Q3_24_NHS_review was removed from gene: ANGPT2.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ANGPT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ANGPT2 were changed from hydrops fetalis, MONDO:0015193; Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 to hydrops fetalis, MONDO:0015193; Lymphatic malformation 10, OMIM:619369; lymphatic malformation 10, MONDO:0023662

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: ANGPT2. Tag Q3_24_NHS_review tag was added to gene: ANGPT2.

29 Aug 2024, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ANGPT2. Mode of inheritance for gene ANGPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes hydrops fetalis, MONDO:0015193 for gene: ANGPT2

9 Jul 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: ANGPT2 was added gene: ANGPT2 was added to Fetal anomalies. Sources: Literature,Expert Review Amber Mode of inheritance for gene: ANGPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANGPT2 were set to 32908006; 34876502 Phenotypes for gene: ANGPT2 were set to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662