Hereditary angioedema
Gene: KNG1EnsemblGeneIds (GRCh38): ENSG00000113889
EnsemblGeneIds (GRCh37): ENSG00000113889
OMIM: 612358, Gene2Phenotype
KNG1 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Onset of episodic subcutaneous and submucosal swelling is typically in adulthood. The face, mouth, and tongue are often affected; some patients have distal limb or abdominal oedema. C1INH levels are normal. Two unrelated multigenerational families reported.
Sources: Expert listCreated: 10 Jun 2021, 8:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary angioedema-6 (HAE6), MIM#619363
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Hereditary angioedema-6 (HAE6), MIM#619363
- OMIM
- 612358
- Clinvar variants
- Variants in KNG1
- 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: kng1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kng1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KNG1 was added gene: KNG1 was added to Hereditary angioedema. Sources: Expert list Mode of inheritance for gene: KNG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KNG1 were set to 31087670; 33114181 Phenotypes for gene: KNG1 were set to Hereditary angioedema-6 (HAE6), MIM#619363 Review for gene: KNG1 was set to AMBER