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Arthrogryposis

Gene: RYR1

Green List (high evidence)

RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 18 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Can present with arthrogryposis -especially with recessive forms which can be more severe
Created: 22 Dec 2016, 10:26 a.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

more typically a myopathy presentation but there are several reports of RYR1 mutations in CMD like presentations so should probably be included.early scoliosis facial weakness +/- ophthalmoplegia
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
congenital muscular dystrophies

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • {Malignant hyperthermia susceptibility 1}, 145600
  • congenital muscular dystrophies
  • Minicore myopathy with external ophthalmoplegia 255320
OMIM
180901
Clinvar variants
Variants in RYR1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 3

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for RYR1 were set to ; {Malignant hyperthermia susceptibility 1}, 145600; congenital muscular dystrophies; Minicore myopathy with external ophthalmoplegia 255320

21 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory RYR1 was added to Arthrogryposispanel. Source:

21 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR1 was added to Arthrogryposispanel. Source: UKGTN RYR1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen RYR1 was added to Arthrogryposispanel. Source: Expert

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR1 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RYR1 was created by ellenmcdonagh