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Clefting disorders

Gene: RYR1

Red List (low evidence)

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID 23553484 describe a cohort of 11 children with severe neonatal-onset RYR1-associated myopathy (both monoallelic and biallelic variants). One child with bialellic variants had cleft palate - not known if there is a family history of clefting.

No other reports of clefting associated with RYR1-related disorders in the published literature.
Created: 19 Jul 2022, 1:29 a.m. | Last Modified: 19 Jul 2022, 1:29 a.m.
Panel Version: 0.180

Phenotypes
RYR1-related myopathy - MONDO:0100150

Publications

History Filter Activity

19 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr1 has been classified as Red List (Low Evidence).

19 Jul 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RYR1 were changed from CCD; CENTRAL CORE DISEASE OF MUSCLE to RYR1-related myopathy - MONDO:0100150

19 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ryr1 has been classified as Red List (Low Evidence).

16 Sep 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RYR1 was added gene: RYR1 was added to Clefting_GEL. Sources: Expert Review Amber Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 23553484 Phenotypes for gene: RYR1 were set to CCD; CENTRAL CORE DISEASE OF MUSCLE