Congenital fibrosis of the extraocular muscles
Gene: MYF5
PMID: 35186005 report one new patient with this disorder, with a novel homozygous frameshift variant due to paternal UPDCreated: 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
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
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
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
Sources: Expert list, LiteratureCreated: 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
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.
Publications for gene: MYF5 were set to 29887215
Tag watchlist tag was added to gene: MYF5.
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