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  3. MYF5
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Congenital ophthalmoplegia

Gene: MYF5

Green List (high evidence)
MYF5 (myogenic factor 5)
EnsemblGeneIds (GRCh38): ENSG00000111049
EnsemblGeneIds (GRCh37): ENSG00000111049
OMIM: 159990, Gene2Phenotype
MYF5 is in 2 panels

1 review

Shannon LeBlanc (Victorian Clinical Genetics Services)

Green List (high evidence)

congenital non-progressive external ophthalmoplegia and ptosis. Other features include hypoplastic or missing ribs with fusion anomalies. Torticollis and scoliosis develops during childhood.

PMID 29887215: three unrelated consanguineous families with homozygous LOF mutations: Two Turkish families with a homozygous 10bp deletion (frameshift), predicted to undergo NMD. Two sisters from a Yemeni family with a homozygous missense variant in exon 1 - in vitro assays showed LOF for the missense variant.

The clinical phenotype overlaps strikingly with several MYF5 knockout mouse models. (PMID: 15386014, 1423602, 9268580, 8918877).
Sources: Literature
Created: 1 Dec 2020, 11:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855

Publications

Created: 1 Dec 2020, 11:48 p.m.

Panel version: 0.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855
OMIM
159990
Clinvar variants
Variants in MYF5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYF5 were set to PMID: 29887215

2 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myf5 has been classified as Green List (High Evidence).

2 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myf5 has been classified as Green List (High Evidence).

1 Dec 2020, Gel status: 0

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

Shannon LeBlanc (Victorian Clinical Genetics Services)

gene: MYF5 was added gene: MYF5 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYF5 were set to PMID: 29887215 Phenotypes for gene: MYF5 were set to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855 Review for gene: MYF5 was set to GREEN