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  2. Hereditary angioedema
  3. ANGPT1
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Hereditary angioedema

Gene: ANGPT1

Amber List (moderate evidence)
ANGPT1 (angiopoietin 1)
EnsemblGeneIds (GRCh38): ENSG00000154188
EnsemblGeneIds (GRCh37): ENSG00000154188
OMIM: 601667, Gene2Phenotype
ANGPT1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary angioedema-5 (HAE5), MIM#619361

Created: 10 Jun 2021, 8:35 a.m.
Last Modified: 10 Jun 2021, 8:35 a.m.
Panel version: 0.7

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A missense variant (A119S) identified in 4 affected individuals in a single family. Supportive data in patient cells, functional assays of the variant, and animal models (both overexpression and null) for the gene.
Sources: Other
Created: 26 Feb 2021, 5:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary angioedema

Publications

Created: 26 Feb 2021, 5:32 a.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Hereditary angioedema-5 (HAE5), MIM#619361
OMIM
601667
Clinvar variants
Variants in ANGPT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angpt1 has been classified as Amber List (Moderate Evidence).

10 Jun 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANGPT1 were changed from Hereditary angioedema to Hereditary angioedema-5 (HAE5), MIM#619361

26 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: angpt1 has been classified as Amber List (Moderate Evidence).

26 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ANGPT1 was added gene: ANGPT1 was added to Hereditary angioedema. Sources: Other Mode of inheritance for gene: ANGPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANGPT1 were set to 28601681; 24852101; 30689269; 10617467; 8980224 Phenotypes for gene: ANGPT1 were set to Hereditary angioedema Review for gene: ANGPT1 was set to AMBER