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  2. Congenital myopathy
  3. MYF5
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Congenital myopathy

Gene: MYF5

Amber List (moderate evidence)
MYF5 (myogenic factor 5)
EnsemblGeneIds (GRCh38): ENSG00000111049
EnsemblGeneIds (GRCh37): ENSG00000111049
OMIM: 159990, Gene2Phenotype
MYF5 is in 3 panels

4 reviews

Ivone Leong (Genomics England Curator)

I don't know

PMID:29887215. 3 families and 5 patients. All patients have external ophthalmoplegia, 3/5 torticollis, 4/5 scoliosis, 0/5 hypotonia/weakness.

After consulting the Genomics England Clinical Team it was decided to leave this gene as Amber on this panel.
Created: 19 Jul 2021, 10:23 a.m. | Last Modified: 19 Jul 2021, 10:23 a.m.
Panel Version: 2.56

Publications

Created: 19 Jul 2021, 10:23 a.m.
Last Modified: 19 Jul 2021, 10:23 a.m.
Panel version: 2.56

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Phenotype is not that of a classical myopathy, predominantly appears to affect ocular muscles.
Created: 3 Jun 2020, 8:34 a.m. | Last Modified: 3 Jun 2020, 8:34 a.m.
Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ophthalmoplegia, external, with rib and vertebral anomalies 618155

Created: 3 Jun 2020, 8:34 a.m.
Last Modified: 3 Jun 2020, 8:34 a.m.
Panel version: 2.5

Louise Daugherty (Genomics England Curator)

Comment on list classification: New Amber gene suggested by Anna Sarkozy (Great Ormond Street Hospital)
Created: 5 Dec 2019, 4:41 p.m. | Last Modified: 5 Dec 2019, 4:41 p.m.
Panel Version: 1.228
Created: 5 Dec 2019, 4:41 p.m.
Last Modified: 5 Dec 2019, 4:41 p.m.
Panel version: 1.228

Anna Sarkozy (Great Ormond Street Hospital)

I don't know

Sources: Expert list, Literature
Created: 5 Dec 2019, 2:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES

Publications

Mode of pathogenicity
Other

Created: 5 Dec 2019, 2:59 p.m.

Panel version: 1.223

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155
OMIM
159990
Clinvar variants
Variants in MYF5
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

24 Jun 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYF5 were changed from OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155

5 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: myf5 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MYF5 were set to PMID: 29887215

5 Dec 2019, Gel status: 0

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

Anna Sarkozy (Great Ormond Street Hospital)

gene: MYF5 was added gene: MYF5 was added to Congenital myopathy. Sources: Expert list,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 Mode of pathogenicity for gene: MYF5 was set to Other Review for gene: MYF5 was set to AMBER