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 (3.43, 10.120)
* Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 (3.43, 10.120)
* Congenital Myopathy 11 - CMYP11 (3.43, 10.120)

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



6q16.3
* Spastic paraplegia and psychomotor retardation with or without seizures - SPPRS (15.86)

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 (10.184, 10.188)
* familial sinusal bradycardia - FSBD (10.184, 10.188)
* Brugada syndrome 8 - BRGDA8 (10.184, 10.188)

HEXB
Hexosaminidase B



5q13.3
* Late onset spinal muscular atrophy related to HEXB - (12.107)

HINT1
Histidine triad nucleotide binding protein 1



5q23.3
* Neuromyotonia and axonal neuropathy, autosomal recessive - NMAN (12.21, 14.85)
* Neuronopathy, Distal hereditary motor related to HINT1 - (12.21, 14.85)

HK1
Hexokinase 1(M)



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

HMGCR
3-Hydroxy-3-methylglutaryl-CoA reductase



5q13.3
* Muscular dystrophy; limb-girdle, autosomal recessive 28 - LGMDR28 (1.41)

HMGCS1
3-hydroxy-3-methylglutaryl-coa synthase 1



5p12
* Rigid spince syndrome related to HMGCS1 - (2.18)

HNRNPA1
Heterogeneous nuclear ribonucleoprotein A1



12q13.13
* Isolated inclusion body myopathy - IBMPFD3 (3.35, 4.7, 12.73)
* Amyotrophic lateral sclerosis 20 - ALS20 (3.35, 4.7, 12.73)
* Myopathy, Distal 3 - MPD3 (3.35, 4.7, 12.73)

HNRNPA2B1
Hetergeneous nuclear ribonucleoprotein A2/B1



7q15.2
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 (5.22, 5.38)
* Oculopharyngeal muscular dystrophy related to HNRNPA2B1 - (5.22, 5.38)

HNRNPDL
Heterogeneous nuclear ribonucleoprotein D-like



4q21
* Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.18)

HOXD10
Homeobox D10



2q31.1
* Charcot-Marie-Tooth disease, congenital, vertical talus - (14.12)

HPDL
4-hydroxyphenylpyruvate dioxygenase-like



1p34.1
* Spastic paraplegia 83, autosomal recessive - SPG83 (15.72)

HRAS
V-Ha-RAS Harvey Rat Sarcoma Viral



11p15.5
* Myopathy, congenital, With excess of muscle spindles - CMEMS (3.46)

HSPB1
Heat shock 27kDa protein 1



7q11.23
* Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.25, 14.53)
* Neuropathy, distal hereditary motor, type IIB - HMN2B (12.25, 14.53)

HSPB3
Heat shock 27kDa protein 3



5q11.2
* neuronopathy, distal hereditary motor, type IIC - HMN2C (12.26)

HSPB8
Heat shock 27kDa protein 8



12q24.23
* Neuropathy, distal hereditary motor, type II - HMN2A (4.27, 4.28, 12.24, 14.58)
* Rimmed vacuole myopathy - (4.27, 4.28, 12.24, 14.58)
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (4.27, 4.28, 12.24, 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)