RYR1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RYR1 (HGNC:10483) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ryanodine receptor 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MHS, MHS1, CCO
Alias symbols
RYR, PPP1R137
%HI
15.43(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.65(Read more about gnomAD LOEUF score)
Cytoband
19q13.2
Genomic Coordinates
GRCh37/hg19: chr19:38924331-39078204 NCBI Ensembl UCSC
GRCh38/hg38: chr19:38433691-38587564 NCBI Ensembl UCSC
MANE Select Transcript
NM_000540.3 ENST00000359596.8 (Read more about MANE Select)
Function
Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:18650434, PubMed:18268335, PubMed:11741831, PubMed:16163667, PubMed:26115329). Repeated very high- level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca(2+... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20087
ClinGen Curation ID:
CCID:007796
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
11/12/2015

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Loss of function variants are almost always associated with autosomal recessive forms of RYR1-diseases which include central core disease, Neuromuscular disease, congenital, with uniform type 1 fiber and Minicore myopathy with external ophthalmoplegia.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence for triplosensitive phenotype

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)