Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

RAB7A
RAB7, member RAS oncogene family



3q21
* Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.42)

RAPSN
Rapsyn



11p11.2-p11.1
* Myasthenic syndrome, congenital - CMS1D (11.11)

RBCK1
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)



20p13
* Polyglucosan storage myopathy - (9.11)

RBM20
RNA binding motif protein 20



10q25.3
* Cardiomyopathy, dilated, 1DD - CMD1DD (10.62)

RBM7
RNA binding motif protein 7



11q23.2
* Spinal motor neuropathy - (12.23)

REEP1
Receptor accessory protein 1(M)



2p11.2
* Distal spinal muscular atrophy, type VB - DSMAVB (12.16, 15.12)
* Spastic paraplegia 31 - SPG31 (12.16, 15.12)

RNF216
Ring finger protein 216



7p22.1
* Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.68)

RRM2B
Ribonucleotide reductase M2 B (TP53 inducible)(M)



8q23.1
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.20, 16.23)

RTN2
Reticulon 2



19q13
* Spastic paraplegia 12 - SPG12 (15.7)

RYR1
Ryanodine receptor 1 (skeletal)



19q13.1
* centronuclear myopathy, recessive - (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* minicore myopathy with external ophthalmoplegia - (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* myopathy, congenital, with fiber-type disproportion - CFTD (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* Malignant hyperthermia susceptibility 1 - MHS1 (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
* Central core disease - CCD (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)

RYR2
Ryanodine receptor 2



1q42.1-q43
* Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.80, 10.91)
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.80, 10.91)
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.80, 10.91)
* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.80, 10.91)