BabyScreen+ newborn screening

Gene: MYH2

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proximal myopathy and ophthalmoplegia, MIM# 605637

Red List (low evidence)

Gene-disease association: strong, but rare. Proximal myopathy and ophthalmoplegia is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. MYPOP can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms

Severity: mild

Age of onset: childhood

Non-molecular confirmatory testing: no

Treatment: symptomatic only therefore exclude

Created: 4 Oct 2022, 7:32 a.m. | Last Modified: 4 Oct 2022, 7:32 a.m.

Panel Version: 0.274

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Proximal myopathy and ophthalmoplegia