Gene table



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

KARS
Lysyl-tRNA synthetase



16q23.1
* Axonal neuropathy recessive - CMTRIB (14.24)

KBTBD13
Kelch repeat and BTB (POZ) domain containing 13



15q22.31
* Nemaline myopathy 6 - NEM6 (3.9)
* LGMD related to KBTBD13 - (3.9, 3.9)

KCNA1
Potassium voltage-gated channel, shaker-related subfamily, member 1



12p13
* Episodic ataxia with myokymia - EA1 (7.12)

KCNA5
Potassium voltage-gated channel, shaker-related subfamily, member 5



12p13.32
* atrial fibrillation, familial - ATFB7 (10.164)

KCNC3
Potassium voltage-gated channel, Shaw-related subfamily, member 3



19q13.33
* Spinocerebellar ataxia 13 - SCA13 (13.12)

KCND3
Potassium voltage-gated channel, Shal-related subfamily, member 3



1p13.2
* Spinocerebellar ataxia 19 - SCA19 (10.185, 13.17)
* Brugada syndrome 9 - BRGDA9 (10.185, 13.17)

KCNE1
Potassium voltage-gated channel, Isk-related family, member 1



21q22.12
* Jervell and Lange-Nielsen cardio-auditory syndrome - JLNS2 (10.140, 10.157)
* Long QT syndrome-5 - LQT5 (10.140, 10.157)

KCNE2
Potassium voltage-gated channel, Isk-related family, member 2



21q22.12
* Atrial fibrillation, 4 - ATFB4 (10.141, 10.161)
* Long QT syndrome-6 - LQT6 (10.141, 10.161)

KCNE3
Potassium voltage-gated channel, Isk-related family, member 3



11q13.4
* Brugada syndrome 6 - BRGDA6 (7.11, 10.182)
* Hypokalaemic periodic paralysis - HOKPP (7.11, 10.182)

KCNH2
Voltage-gated potassium channel, subfamily H, member 2



7q36.1
* Short qt syndrome 1 - SQT1 (10.137, 10.153)
* Long QT syndrome-2 - LQT2 (10.137, 10.153)

KCNJ18
Kir2.6 (inwardly rectifying potassium channel 2.6)



17p11.2
* Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 (7.13)

KCNJ2
Potassium channel, inwardly rectifying, dubfamily J, member 2



17q24.3
* Long QT syndrome-7 - LQT7 (10.142, 10.155, 10.166)
* Atrial fibrillation, 9 - ATFB9 (10.142, 10.155, 10.166)
* Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (10.142, 10.155, 10.166)
* Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (10.142, 10.155, 10.166)

KCNJ5
Potassium inwardly-rectifying channel, subfamily J, member 5



11 q24.3
* Long QT syndrome 13 - LQT13 (10.148, 10.152)
* Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (10.148, 10.152)

KCNQ1
Potassium voltage-gated channel, KQT-like subfamily, member 1



11p15.5-p15.4
* Atrial fibrillation, 3 - ATFB3 (10.136, 10.154, 10.156, 10.160)
* jervell and lange-nielsen syndrome - JLNS1 (10.136, 10.154, 10.156, 10.160)
* Romano-Ward syndrome - RWS (10.136, 10.154, 10.156, 10.160)
* Long QT syndrome-1 - LQT1 (10.136, 10.154, 10.156, 10.160)

KIAA0196
Strumpellin



8q24.13
* Spastic paraplegia 8 - SPG8 (15.4)

KIDINS220
kinase D-interacting substrate, 220kDa



2p25.1
* Spastic paraplegia, intellectual disability, nystagmus, and obesity - SINO (15.26)

KIF1A
Kinesin family member 1A



2q37.3
* Neuropathy, hereditary sensory, type IIC - HSN2C (14.121, 15.13, 15.42)
* Spastic paraplegia 30 - SPG30 (14.121, 15.13, 15.42)

KIF1B
Kinesin family member 1B(M)



1p36.2
* Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.54)

KIF1C
kinesin family member 1C



17p13.2
* ataxia, spastic, 2, autosomal recessive - SPAX2 (15.89)

KIF20A
Kinesin family member 20A



5q31.2
* Restrictive cardiomyopathy, 6 - RCM6 (10.101)

KIF21A
Kinesin family member 21A



12q12
* Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (16.5)

KIF26B
Kinesin family member 26B



1q44
* Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B - (12.106)

KIF5A
Kinesin family member 5A



12q13.13
* Spastic paraplegia 10 - SPG10 (12.76, 14.80, 15.6)
* CMT2 related to KIF5A - (12.76, 14.80, 15.6)
* Amyotrophic lateral sclerosis 25, susceptibility to - ALS25 (12.76, 14.80, 15.6)

KLC2
Kinesin light chain 2



11q13.2
* Spastic paraplegia, optic atrophy, and neuropathy - SPOAN (15.82)

KLHL24
Kelch-like 24



3q27.1
* Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies - CMH29 (10.31)

KLHL40
Kelch-like family member 40



2p22.1
* Severe autosomal-recessive nemaline myopathy - NEM8 (3.11)

KLHL41
Kelch-like family member 41



2q31.1
* Nemaline myopathy - NEM9 (3.12)

KLHL9
Kelch-like homologue 9



9p21.2-p22.3
* Early onset distal myopathy with KLHL9 mutations - (4.21)

KPNA3
Karyopherin alpha-3



13q14.2
* Spastic paraplegia 88, autosomal dominant - SPG88 (15.25)

KY
Kyphoscoliosis peptidase



3q22.2
* Myopathy microfibrillar type 7 - MFM7 (5.8)