Congenital myopathy
Gene: MYF5
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
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
Phenotypes for gene: MYF5 were changed from OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155
Gene: myf5 has been classified as Amber List (Moderate Evidence).
Publications for gene: MYF5 were set to PMID: 29887215
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