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 (14.72)

KBTBD13
Kelch repeat and BTB (POZ) domain containing 13



15q22.31
* Nemaline myopathy 6 - NEM6 (3.6)

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



12p13
* Episodic ataxia with myokymia - EA1 (7.12, 13.34)

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



12p13
* atrial fibrillation, familial - ATFB7 (10.126)

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



19q13.3-q13.4
* Spinocerebellar ataxia 13 - SCA13 (13.12)

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



1p13.2
* Spinocerebellar ataxia 19 - SCA19 (13.17)

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



21q22.1-q22.2
* Jervell and Lange-Nielsen syndrome - JLNS1 (7.19, 10.106)
* Long QT syndrome-5 - LQT5 (7.19, 10.106)

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



21q22.12
* Atrial fibrillation, 4 - ATFB4 (7.18, 10.107, 10.119, 10.123)
* Long QT syndrome-6 - LQT6 (7.18, 10.107, 10.119, 10.123)

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



11q13-q14
* Brugada syndrome 6 - BRGDA6 (7.11, 10.139)
* Hypokalaemic periodic paralysis, type 3 - hypoKPP3 (7.11, 10.139)

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



7q35-q36
* Short qt syndrome 1 - SQT1 (7.15, 10.103, 10.115)
* Long QT syndrome-2 - LQT2 (7.15, 10.103, 10.115)

KCNJ18
Kir2.6 (inwardly rectifying potassium channel 2.6)



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

KCNJ2
Potassium inwardly-rectifying channel J2



17q23
* Long QT syndrome-7 - LQT7 (7.14, 10.108, 10.117, 10.128)
* Atrial fibrillation, 9 - ATFB9 (7.14, 10.108, 10.117, 10.128)
* Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (7.14, 10.108, 10.117, 10.128)

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



11 q24.3
* Long QT syndrome 13 - LQT13 (10.114)

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



11p15.5
* Atrial fibrillation, 3 - ATFB3 (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
* jervell and lange-nielsen syndrome - JLNS1 (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
* Romano-Ward syndrome - RWS (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
* Long QT syndrome-1 - LQT1 (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)

KIAA0196
Strumpellin



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

KIF1A
Kinesin family member 1A



2q37.3
* Neuropathy, hereditary sensory, type IIC - HSN2C (14.83, 15.34)
* Spastic paraplegia 30 - SPG30 (14.83, 15.34)

KIF1B
Kinesin family member 1B(M)



1p36.2
* Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.40)

KIF1C
kinesin family member 1C



17p13.2
* ataxia, spastic, 2, autosomal recessive - SPAX2 (15.68)

KIF21A
Kinesin family member 21A



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

KIF5A
Kinesin family member 5A



12q13.13
* Spastic paraplegia 10 - SPG10 (14.65, 15.6)
* CMT2 related to KIF5A - (14.65, 15.6)

KLHL40
Kelch-like family member 40



2p22.1
* Severe autosomal-recessive nemaline myopathy - NEM8 (3.8)

KLHL41
Kelch-like family member 41



2q31.1
* Nemaline myopathy - NEM9 (3.9)

KLHL9
Kelch-like homologue 9



9p21.2-p22.3
* Early onset distal myopathy with KLHL9 mutations - (4.15)

KY
Kyphoscoliosis peptidase



3q22.2
* Myopathy microfibrillar type 7 - MFM7 (5.11)