Congenital ophthalmoplegia

Gene: RYR1

Green List (high evidence)

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 21 panels

1 review

Shannon LeBlanc (Victorian Clinical Genetics Services)

Green List (high evidence)

ophthalmoplegia is a common features. Also presents with congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy,
Sources: Literature
Created: 16 Nov 2020, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Minicore myopathy with external ophthalmoplegia 255320

History Filter Activity

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr1 has been classified as Green List (High Evidence).

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr1 has been classified as Green List (High Evidence).

16 Nov 2020, Gel status: 0

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

Shannon LeBlanc (Victorian Clinical Genetics Services)

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