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Congenital ophthalmoplegia v0.66 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Congenital ophthalmoplegia v0.66 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.66 RYR1 Zornitza Stark Classified gene: RYR1 as Green List (high evidence)
Congenital ophthalmoplegia v0.66 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.59 RYR1 Shannon LeBlanc gene: RYR1 was added
gene: RYR1 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia 255320
Review for gene: RYR1 was set to GREEN
Added comment: ophthalmoplegia is a common features. Also presents with congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy,
Sources: Literature