1. Panels
  2. Congenital fibrosis of the extraocular muscles
  3. MYF5
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital fibrosis of the extraocular muscles

Gene: MYF5

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

6 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 11:22 a.m. | Last Modified: 6 Dec 2024, 11:22 a.m.
Panel Version: 1.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Dec 2024, 11:22 a.m.
Last Modified: 6 Dec 2024, 11:22 a.m.
Panel version: 1.18

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

PMID: 35186005 report one new patient with this disorder, with a novel homozygous frameshift variant due to paternal UPD
Created: 2 Nov 2023, 1:38 p.m. | Last Modified: 2 Nov 2023, 1:38 p.m.
Panel Version: 1.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ophthalmoplegia, external, with rib and vertebral anomalies, 618155

Publications

Created: 2 Nov 2023, 1:38 p.m.
Last Modified: 2 Nov 2023, 1:38 p.m.
Panel version: 1.15

Ivone Leong (Genomics England Curator)

I don't know

There is now enough evidence for this gene to be promoted to Green status. This gene should be promoted to Green at the next GMS review.
Created: 7 Nov 2023, 2:02 p.m. | Last Modified: 7 Nov 2023, 2:02 p.m.
Panel Version: 1.16
PMID:29887215. 3 families and 5 patients. 2 families from the same village Turkey with the same variant (c.23_32delAGTTCTCACC) and 1 family from Yemen (c.283C>T). 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 that this gene is appropriate for the Congenital fibrosis of the extraocular muscles panel. This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). As 2 of the cases could be due to founder effect (Turkish families) and only 1 other case, there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating until more evidence is available.
Created: 19 Jul 2021, 10:23 a.m. | Last Modified: 19 Jul 2021, 10:46 a.m.
Panel Version: 1.12

Publications

Created: 19 Jul 2021, 10:23 a.m.
Last Modified: 19 Jul 2021, 10:46 a.m.
Copied from panel: Congenital myopathy v2.56

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.
Copied from panel: Congenital myopathy v2.56

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.
Copied from panel: Congenital myopathy v2.56

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.

Copied from panel: Congenital myopathy v2.56

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
  • Expert list
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

6 Dec 2024, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: MYF5. Tag Q4_23_NHS_review was removed from gene: MYF5.

6 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to MYF5. Source Expert Review Green was added to MYF5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Nov 2023, Gel status: 2

Removed Tag, Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist was removed from gene: MYF5. Tag Q4_23_promote_green tag was added to gene: MYF5. Tag Q4_23_NHS_review tag was added to gene: MYF5.

7 Nov 2023, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MYF5 were set to 29887215

19 Jul 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: MYF5.

19 Jul 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: MYF5 was added gene: MYF5 was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Amber,Expert list,Literature Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYF5 were set to 29887215 Phenotypes for gene: MYF5 were set to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 Mode of pathogenicity for gene: MYF5 was set to Other