Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
RAB7ARAB7, member RAS oncogene family | 3q21 | * Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.56)
|
RAF1V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1 | 3p25.2 | * Dilated cardiomyopathy related to RAF1 - CMD1NN (10.78)
|
| 11p11.2-p11.1 | * Myasthenic syndrome, congenital - CMS1D (11.19, 16.29) * Fetal akinesia deformation sequence 2 - FADS2 (11.19, 16.29) * Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 (11.19, 16.29)
|
RBCK1RanBP-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)
|
RBM20RNA binding motif protein 20 | 10q25.3 | * Cardiomyopathy, dilated, 1DD - CMD1DD (10.68)
|
RBM7RNA binding motif protein 7 | 11q23.2 | * Spinal motor neuropathy - (12.12)
|
REEP1Receptor accessory protein 1(M) | 2p11.2 | * Neuropathy, distal hereditary motor, autosomal recessive 6 - HMNR6 (12.18, 12.35, 15.14) * Distal spinal muscular atrophy, type VB - DSMAVB (12.18, 12.35, 15.14) * Spastic paraplegia 31 - SPG31 (12.18, 12.35, 15.14) * Neuronopathy, distal hereditary motor, autosomal dominant 12 - HMND12 (12.18, 12.35, 15.14)
|
REEP2Receptor expression-enhancing proten 2 | 5q31.2 | * Spastic paraplegia 72, autosomal recessive - SPG72 (15.21, 15.66) * Spastic paraplegia 72, autosomal dominant - SPG72 (15.21, 15.66)
|
RETREG1Family with sequence similarity 134 member B | 5p15.1 | * Hereditary sensory neuropathy, type IIB - HSAN2B (14.110)
|
RFC1Replication Factor C Subunit 1 | 4p14 | * Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - CANVAS (14.128)
|
RILPL1Rab-interacting lysosomal protein-like 1 | 12q24.31 | * Oculopharyngodistal myopathy 4 - OPDM4 (5.25)
|
RNASEH1Ribonuclease H1(M) | 2p25.3 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.41)
|
RNF170Ring finger protein 170 | 8p11.21 | * Spastic paraplegia 85, autosomal recessive - SPG85 (15.77)
|
RNF216Ring finger protein 216 | 7p22.1 | * Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.105)
|
RNF220Ring finger protein 220 | 1p34.1 | * Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy - HLD23 (13.107)
|
RNU12RNA, U12 small nuclear | 22q13.2 | * Spinocerebellar ataxia, autosomal recessive 33 - SCAR33 (13.93)
|
| 12q23.3 | * Congenital myasthenic syndrome related to RPH3A - (11.40)
|
RPL3LRibosomal protein L3-like | 16p13.3 | * Dilated cardiomyopathy, 2D - CMD2D (10.85)
|
RRM2BRibonucleotide reductase M2 B (TP53 inducible)(M) | 8q23.1 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.38, 16.51, 16.52) * Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.38, 16.51, 16.52)
|
| 19q13 | * Spastic paraplegia 12 - SPG12 (15.7)
|
RUBCNRUN domain and cysteine-rich domain containing, Beclin 1-interacting protein | 3q29 | * Spinocerebellar ataxia, autosomal recessive 15 - SCAR15 (13.75)
|
RXYLT1Ribitol xylosyltransferase 1 (transmembrane protein 5) | 12q14.2 | * Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.27)
|
RYR1Ryanodine receptor 1 (skeletal) | 19q13.1 | * centronuclear myopathy, recessive - (2.50, 3.24, 3.26, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31) * minicore myopathy with external ophthalmoplegia - (2.50, 3.24, 3.24, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31) * myopathy, congenital, with fiber-type disproportion - CFTD (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31) * Fetal akinesia deformation sequence related to RYR1 - (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31) * Dusty core disease related to RYR1 - DuCD (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31) * Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31) * Congenital myopathy 1B, recessive - CMYP1B (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31) * Malignant hyperthermia susceptibility 1 - MHS1 (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31) * Central core disease - CCD (2.50, 3.24, 3.26, 3.26, 3.27, 3.27, 3.28, 3.60, 5.39, 8.1, 16.31)
|
| 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)
|
| 15q13-q14 | * Myopathy with nemaline bodies - (3.16)
|