Skeletal Muscle Channelopathies

Gene: RYR1

Green List (high evidence)

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

This gene was added after discussion with the expert reviewer Dr Matthews (UCL Institute of Neurology). Please note both AD and AR inheritance, and the risk of malignant hyperthermia susceptibility in affected individuals and potentially unaffected carriers.
Created: 21 Feb 2017, 1:41 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Feb 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

RYR1 was added to Skeletal Muscle Channelopathiespanel. Sources: Expert Review

21 Feb 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

RYR1 was created by arianna