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 (14.49)

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



3p25.2
* Dilated cardiomyopathy related to RAF1 - CMD1NN (10.77)

RAPSN
Rapsyn



11p11.2-p11.1
* Myasthenic syndrome, congenital - CMS1D (11.19, 17.30)
* Fetal akinesia deformation sequence 2 - FADS2 (11.19, 17.30)
* Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 (11.19, 17.30)

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



20p13
* Polyglucosan Body Myopathy 1 with or without immunodeficiency - PGBM1 (9.10)

RBM20
RNA binding motif protein 20



10q25.3
* Cardiomyopathy, dilated, 1DD - CMD1DD (10.67)

RBM7
RNA binding motif protein 7



11q23.2
* Spinal motor neuropathy - (12.40)

REEP1
Receptor accessory protein 1(M)



2p11.2
* Neuropathy, distal hereditary motor, autosomal recessive 6 - HMNR6 (12.10, 12.34, 15.13)
* Distal spinal muscular atrophy, type VB - DSMAVB (12.10, 12.34, 15.13)
* Spastic paraplegia 31 - SPG31 (12.10, 12.34, 15.13)
* Neuronopathy, distal hereditary motor, autosomal dominant 12 - HMND12 (12.10, 12.34, 15.13)

REEP2
Receptor expression-enhancing proten 2



5q31.2
* Spastic paraplegia 72, autosomal recessive - SPG72 (15.20, 15.63)
* Spastic paraplegia 72, autosomal dominant - SPG72 (15.20, 15.63)

RETREG1
Family with sequence similarity 134 member B



5p15.1
* Hereditary sensory neuropathy, type IIB - HSAN2B (14.106)

RFC1
Replication Factor C Subunit 1



4p14
* Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - CANVAS (14.125)

RILPL1
Rab-interacting lysosomal protein-like 1



12q24.31
* Oculopharyngodistal myopathy 4 - OPDM4 (5.26)

RNASEH1
Ribonuclease H1(M)



2p25.3
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.8)

RNF170
Ring finger protein 170



8p11.21
* Spastic paraplegia 85, autosomal recessive - SPG85 (15.74)

RNF216
Ring finger protein 216



7p22.1
* Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.105)

RNF220
Ring finger protein 220



1p34.1
* Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy - HLD23 (13.107)

RPH3A
Rabphilin 3A



12q23.3
* Congenital myasthenic syndrome related to RPH3A - (11.40)

RPL3L
Ribosomal protein L3-like



16p13.3
* Dilated cardiomyopathy, 2D - CMD2D (10.84)

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



8q23.1
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.5, 17.40, 17.41)
* Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.5, 17.40, 17.41)

RTN2
Reticulon 2



19q13
* Spastic paraplegia 12 - SPG12 (12.15, 15.7)

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



3q29
* Spinocerebellar ataxia, autosomal recessive 15 - SCAR15 (13.75)

RXYLT1
Ribitol xylosyltransferase 1 (transmembrane protein 5)



12q14.2
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.28)

RYR1
Ryanodine receptor 1 (skeletal)



19q13.1
* centronuclear myopathy, recessive - (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)
* minicore myopathy with external ophthalmoplegia - (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)
* Fetal akinesia deformation sequence related to RYR1 - (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)
* Dusty core disease related to RYR1 - DuCD (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)
* Congenital myopathy 1B, recessive - CMYP1B (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)
* Malignant hyperthermia susceptibility 1 - MHS1 (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)
* Central core disease - CCD (2.51, 3.23, 3.25, 3.26, 3.27, 3.64, 5.40, 8.1, 17.32)

RYR2
Ryanodine receptor 2



1q43
* Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.116, 10.128)
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.116, 10.128)
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.116, 10.128)
* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.116, 10.128)

RYR3
Ryanodine receptor 3



15q13-q14
* Myopathy with nemaline bodies - (3.15)