Hereditary angioedema
Gene: MYOF
MYOF (myoferlin)
EnsemblGeneIds (GRCh38): ENSG00000138119
EnsemblGeneIds (GRCh37): ENSG00000138119
OMIM: 604603, Gene2Phenotype
MYOF is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000138119
EnsemblGeneIds (GRCh37): ENSG00000138119
OMIM: 604603, Gene2Phenotype
MYOF is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three individuals from one family reported, onset of recurrent episodic swelling of the face, lips, and oral mucosa was in the second decade. Variant was also present in another unaffected family member. Some functional data.
Sources: Expert listCreated: 10 Jun 2021, 10:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary angioedema-7 (HAE7), MIM#619366
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Hereditary angioedema-7 (HAE7), MIM#619366
- OMIM
- 604603
- Clinvar variants
- Variants in MYOF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
10 Jun 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myof has been classified as Red List (Low Evidence).
10 Jun 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYOF was added gene: MYOF was added to Hereditary angioedema. Sources: Expert list Mode of inheritance for gene: MYOF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYOF were set to 32542751 Phenotypes for gene: MYOF were set to Hereditary angioedema-7 (HAE7), MIM#619366 Review for gene: MYOF was set to RED