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, 16.28)
* Fetal akinesia deformation sequence 2 - FADS2 (11.19, 16.28)
* Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 (11.19, 16.28)

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 (9.11)

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 - (12.33)

REEP1
Receptor accessory protein 1(M)



2p11.2
* Distal spinal muscular atrophy, type VB - DSMAVB (12.24, 15.12)
* Spastic paraplegia 31 - SPG31 (12.24, 15.12)
* Neuronopathy, distal hereditary motor, type VB - HMN5B (12.24, 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 (14.104)

RFC1
Replication Factor C Subunit 1



4p14
* Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - CANVAS (14.122)

RILPL1
Rab-interacting lysosomal protein-like 1



12q24.31
* Oculopharyngodistal myopathy 4 - OPDM4 (5.24)

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 (13.99)

RNF220
Ring finger protein 220



1p34.1
* Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy - HLD23 (13.101)

RPH3A
Rabphilin 3A



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

RPL3L
Ribosomal protein L3-like



16p13.3
* Dilated cardiomyopathy, 2D - CMD2D (10.83)

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 (13.71)

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, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* minicore myopathy with external ophthalmoplegia - (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* Fetal akinesia deformation sequence related to RYR1 - (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* Dusty core disease related to RYR1 - DuCD (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* Malignant hyperthermia susceptibility 1 - MHS1 (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
* Central core disease - CCD (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)

RYR2
Ryanodine receptor 2



1q43
* Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.112, 10.124)
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.112, 10.124)
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.112, 10.124)
* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.112, 10.124)

RYR3
Ryanodine receptor 3



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