MYOF

Analyte Export to PDF

Name:	myoferlin
Symbol:	MYOF
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	KIAA1207 fer-1-like family member 3
XREF(s):	Orphanet Ensembl OMIM SwissProt HGNC
Created:	20 Aug 2021 - 01:08
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Hereditary Angioedema (7 genes)

Related Diseases

• Hereditary angioedema with normal C1Inh not related to F12 or PLG variant

Related Gene Panels

• Angioedema (7 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  PLG	100.00	1	NM_000301.4
  F12	100.00	1	NM_000505.3
  SERPING1	100.00	1	NM_000062.3
  KNG1	100.00	1	NM_001102416.3
  ANGPT1	100.00	1	NM_001146.5
  HS3ST6	100.00	1	NM_001009606.4
  MYOF	100.00	1	NM_013451.4