Gene table



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

HACD1
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



10p12.33
* Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 (3.49, 10.116)
* Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 (3.49, 10.116)
* Congenital myopathy related to PTPLA - (3.49, 10.116)

HACE1
Hect domain- and Ankyrin repeat- contaiing E3 Ubiquitin protein ligase 1



6q16.3
* Spastic paraplegia and psychomotor retardation with or without seizures - SPPRS (15.71)

HARS
Histidyl-tRNA synthetase



5q31.3
* Charcot-Marie-Tooth neuropathy Type 2W - CMT2W (14.65)

HCN4
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



3p22.2
* Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.180, 10.184)
* familial sinusal bradycardia - FSBD (10.180, 10.184)
* Brugada syndrome 8 - BRGDA8 (10.180, 10.184)

HEXB
Hexosaminidase B



5q13.3
* Late onset spinal muscular atrophy related to HEXB - (12.98)

HINT1
Histidine triad nucleotide binding protein 1



5q23.3
* Axonal neuropathy with myotonia - NMAN (12.16, 14.83)
* Distal hereditary motor neuronopathy - (12.16, 14.83)

HK1
Hexokinase 1(M)



10q22.1
* Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.31)

HNRNPA1
Heterogeneous nuclear ribonucleoprotein A1



12q13.13
* Isolated inclusion body myopathy - IBMPFD3 (3.40, 12.66)
* Amyotrophic lateral sclerosis 20 - ALS20 (3.40, 12.66)

HNRNPA2B1
Hetergeneous nuclear ribonucleoprotein A2/B1



7q15.2
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 (5.25, 5.35)
* Oculopharyngeal muscular dystrophy related to HNRNPA2B1 - (5.25, 5.35)

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 - (14.10)

HRAS
V-Ha-RAS Harvey Rat Sarcoma Viral



11p15.5
* Myopathy, congenital, With excess of muscle spindles - CMEMS (3.52)

HSPB1
Heat shock 27kDa protein 1



7q11.23
* Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.20, 14.53)
* Neuropathy, distal hereditary motor, type IIB - HMN2B (12.20, 14.53)

HSPB3
Heat shock 27kDa protein 3



5q11.2
* neuronopathy, distal hereditary motor, type IIC - HMN2C (12.21)

HSPB8
Heat shock 27kDa protein 8



12q24.23
* Neuropathy, distal hereditary motor, type II - HMN2A (4.28, 4.29, 12.19, 14.58)
* Rimmed vacuole myopathy - (4.28, 4.29, 12.19, 14.58)
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (4.28, 4.29, 12.19, 14.58)

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)