Gene table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

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

RAB7
member RAS oncogene family

3q21
* Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.37)

RAPSN
rapsyn

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

RBM20
RNA binding motif protein 20

10q25.3
* Cardiomyopathy, dilated, 1DD - CMD1DD (10.59)

REEP1
receptor accessory protein 1

2p11.2
* Spastic paraplegia 31 - SPG31 (15.12)

RRM2B
ribonucleotide reductase M2 B (TP53 inducible)

8q23.1
* Mitochondrial dna depletion syndrome 8A - MTDP8B (16.20, 16.23)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.20, 16.23)

RYR1
ryanodine receptor 1 (skeletal)

19q13.1
* myopathy, congenital, with fiber-type disproportion - CFTD (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* Central core disease - CCD (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* Malignant hyperthermia susceptibility 1 - MHS1 (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* centronuclear myopathy, recessive - (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* minicore myopathy with external ophthalmoplegia - (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)

RYR2
ryanodine receptor 2

1q42.1-q43
* Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.73, 10.84)
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.73, 10.84)
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.73, 10.84)
* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.73, 10.84)