Gene table



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

HARS
histidyl-tRNA synthetase



5q31.3
* Charcot-Marie-Tooth neuropathy Type 2W - CMT2W (14.60)

HCN4
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



15q24.1
* Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.142)
* familial sinusal bradycardia - FSBD (10.142)

HEXB
Hexosaminidase B



5q13.3
* Late onset spinal muscular atrophy related to HEXB - (12.73)

HINT1
Histidine triad nucleotide binding protein 1



5q23.3
* Axonal neuropathy with myotonia - NMAN (14.71)

HK1
Hexokinase 1(M)



10q22.1
* Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.26)

HNRNPA1
heterogeneous nuclear ribonucleoprotein A1



12q13.13
* Isolated inclusion body myopathy - IBMPFD3 (3.35, 12.57)
* Amyotrophic lateral sclerosis 20 - ALS20 (3.35, 12.57)

HNRNPDL
Heterogeneous nuclear ribonucleoprotein D-like



4q21
* Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.19)

HOXD10
Homeobox D10



2q31.1
* Charcot-Marie-Tooth disease, congenital, vertical talus - (14.8)

HSPB1
Heat shock 27kDa protein 1



7q11.23
* Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.11, 14.46)
* Neuropathy, distal hereditary motor, type IIB - HMN2B (12.11, 14.46)

HSPB3
Heat shock 27kDa protein 3



5q11.2
* neuronopathy, distal hereditary motor, type IIC - HMN2C (12.12)

HSPB8
Heat shock 27kDa protein 8



12q24.23
* Neuropathy, distal hereditary motor, type II - HMN2A (12.10, 14.52)
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (12.10, 14.52)

HSPD1
Heat shock 60kDa protein 1 (chaperonin)(M)



2q33.1
* Spastic paraplegia 13 - SPG13 (15.8)

HSPG2
Perlecan



1p36.1-p34
* Schwartz-Jampel syndrome, type 1 - SJS1 (6.8)
* Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)