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Primary immunodeficiency

Gene: MYOF

Red List (low evidence)

MYOF (myoferlin)
EnsemblGeneIds (GRCh38): ENSG00000138119
EnsemblGeneIds (GRCh37): ENSG00000138119
OMIM: 604603, Gene2Phenotype
MYOF is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Rating Red as only a single family has been reported at this time. Likely incomplete penetrance as one unaffected family member also carried the variant (PMID:32542751)
Created: 15 Jun 2021, 10:43 a.m. | Last Modified: 15 Jun 2021, 10:43 a.m.
Panel Version: 2.431

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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: Literature
Created: 11 Jun 2021, 10:39 a.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
Phenotypes
  • ?Angioedema, hereditary, 7, OMIM:619366
OMIM
604603
Clinvar variants
Variants in MYOF
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

15 Jun 2021, Gel status: 1

Set penetrance

Arina Puzriakova (Genomics England Curator)

Penetrance for gene MYOF was set from to None

15 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: myof has been classified as Red List (Low Evidence).

15 Jun 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYOF were changed from Hereditary angioedema-7 (HAE7), MIM#619366 to ?Angioedema, hereditary, 7, OMIM:619366

11 Jun 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MYOF was added gene: MYOF was added to Primary immunodeficiency. Sources: Literature 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