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 (3.47, 10.108)
* Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 (3.47, 10.108)
* Congenital myopathy related to PTPLA - (3.47, 10.108)

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 (14.64)

HCN4
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



3p22.2
* Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.170, 10.173)
* familial sinusal bradycardia - FSBD (10.170, 10.173)
* Brugada syndrome 8 - BRGDA8 (10.170, 10.173)

HEXB
Hexosaminidase B



5q13.3
* Late onset spinal muscular atrophy related to HEXB - (12.93)

HINT1
Histidine triad nucleotide binding protein 1



5q23.3
* Axonal neuropathy with myotonia - NMAN (12.15, 14.80)
* Distal hereditary motor neuronopathy - (12.15, 14.80)

HK1
Hexokinase 1(M)



10q22.1
* Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.30)

HNRNPA1
Heterogeneous nuclear ribonucleoprotein A1



12q13.13
* Isolated inclusion body myopathy - IBMPFD3 (3.38, 12.63)
* Amyotrophic lateral sclerosis 20 - ALS20 (3.38, 12.63)

HNRNPA2B1
Hetergeneous nuclear ribonucleoprotein A2/B1



7q15.2
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 (5.30)

HNRNPDL
Heterogeneous nuclear ribonucleoprotein D-like



4q21
* Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.15)

HOXD10
Homeobox D10



2q31.1
* Charcot-Marie-Tooth disease, congenital, vertical talus - (14.9)

HRAS
V-Ha-RAS Harvey Rat Sarcoma Viral



11p15.5
* Myopathy, congenital, With excess of muscle spindles - CMEMS (3.50)

HSPB1
Heat shock 27kDa protein 1



7q11.23
* Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.18, 14.52)
* Neuropathy, distal hereditary motor, type IIB - HMN2B (12.18, 14.52)

HSPB3
Heat shock 27kDa protein 3



5q11.2
* neuronopathy, distal hereditary motor, type IIC - HMN2C (12.19)

HSPB8
Heat shock 27kDa protein 8



12q24.23
* Neuropathy, distal hereditary motor, type II - HMN2A (4.24, 4.26, 12.17, 14.57)
* Rimmed vacuole myopathy - (4.24, 4.26, 12.17, 14.57)
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (4.24, 4.26, 12.17, 14.57)

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)
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