Clefting
Gene: RYR1
RYR1 (ryanodine receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000196218
EnsemblGeneIds (GRCh37): ENSG00000196218
OMIM: 180901, Gene2Phenotype
RYR1 is in 19 panels
1 review
Helen Brittain (Genomics England Curator)
Causation is clear and clefting is reported. However, the cases with clefts have had a severe neuromuscular presentation. In view of the complexities of reporting AD and AR variants in this gene, it would be better suited to those with a NM phenotype rather than isolated cleftingCreated: 26 May 2017, 7:40 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CENTRAL CORE DISEASE OF MUSCLE; CCD
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- CENTRAL CORE DISEASE OF MUSCLE
- CCD
- OMIM
- 180901
- Clinvar variants
- Variants in RYR1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital myaesthenic syndrome
- Fetal hydrops
- DDG2P
- Skeletal muscle channelopathy
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- Rhabdomyolysis and metabolic muscle disorders
- Acute rhabdomyolysis
- Malignant hyperthermia
- Skeletal Muscle Channelopathies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Congenital myopathy
- Paroxysmal central nervous system disorders
- Congenital muscular dystrophy
- Arthrogryposis
- Fetal anomalies
History Filter Activity
31 May 2017, Gel status: 2
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RYR1 was created by ellenmcdonagh
26 May 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)RYR1 was added to Cleftingpanel. Sources: Expert Review Amber