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 (14.48)

RAF1
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



3p25.2
* Dilated cardiomyopathy related to RAF1 - CMD1NN (10.75)

RAPSN
Rapsyn



11p11.2-p11.1
* Myasthenic syndrome, congenital - CMS1D (11.17, 16.28)
* Fetal akinesia deformation sequence 2 - FADS2 (11.17, 16.28)

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 (10.65)

RBM7
RNA binding motif protein 7



11q23.2
* Spinal motor neuropathy - (12.31)

REEP1
Receptor accessory protein 1(M)



2p11.2
* Distal spinal muscular atrophy, type VB - DSMAVB (12.23, 15.12)
* Spastic paraplegia 31 - SPG31 (12.23, 15.12)

REEP2
Receptor expression-enhancing proten 2



5q31.2
* Spastic paraplegia 72, autosomal recessive - SPG72 (15.19, 15.61)
* Spastic paraplegia 72, autosomal dominant - SPG72 (15.19, 15.61)

RETREG1
Family with sequence similarity 134 member B



5p15.1
* Hereditary sensory neuropathy, type IIB - HSAN2B (14.98)

RNASEH1
Ribonuclease H1(M)



2p25.3
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.40)

RNF216
Ring finger protein 216



7p22.1
* Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.93)

RPH3A
Rabphilin 3A



12q23.3
* Congenital myasthenic syndrome related to RPH3A - (11.38)

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



8q23.1
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.37, 16.50, 16.51)
* Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.37, 16.50, 16.51)

RTN2
Reticulon 2



19q13
* Spastic paraplegia 12 - SPG12 (15.7)

RUBCN
RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein



3q29
* Spinocerebellar ataxia, autosomal recessive 15 - SCAR15 (13.68)

RXYLT1
Ribitol xylosyltransferase 1 (transmembrane protein 5)



12q14.2
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.39)

RYR1
Ryanodine receptor 1 (skeletal)



19q13.1
* centronuclear myopathy, recessive - (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* minicore myopathy with external ophthalmoplegia - (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* Fetal akinesia deformation sequence related to RYR1 - (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* Dusty core disease related to RYR1 - DuCD (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* Malignant hyperthermia susceptibility 1 - MHS1 (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)
* Central core disease - CCD (2.53, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 3.64, 5.32, 8.1, 16.30)

RYR2
Ryanodine receptor 2



1q43
* Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.104, 10.115)
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.104, 10.115)
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.104, 10.115)
* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.104, 10.115)

RYR3
Ryanodine receptor 3



15q13-q14
* Myopathy with nemaline bodies - (3.13)