All individuals with variants in gene KIF5A

31 entries on 1 page. Showing entries 1 - 31.
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00003009 Pat1mov;Pat12 PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - SPG10 hereditary spastic paraplegia 1 1 Marcel Nelen
00003010 Pat2mov;Pat14 PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - F - - - - - - - SPG10 hereditary spastic paraplegia 1 1 Marcel Nelen
00003011 Pat3mov;Pat13 PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - F - - - - - - - SPG10 hereditary spastic paraplegia 1 1 Marcel Nelen
00039353 - - - - - Greece - - - - - SPG10 - 1 1 David Lynch
00039354 - - - - - Greece - - - - - SPG10 - 1 1 David Lynch
00132963 - - - M - (Germany) - - - - - ? Abnormality of movement (HP:0100022); Polyneuropathy (HP:0001271) 1 1 IMGAG
00154962 - - - M - (Germany) - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00218999 28902413-Pat9 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - CMT CMT2 + pyramidal; no family history 1 1 Johan den Dunnen
00227944 - - - M - - - - - - - ? Spastic paraplegia (HP:0001258); Cognitive impairment (HP:0100543) 1 1 IMGAG
00230655 - - - F - - - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00245883 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Tall stature (HP:0000098); Pachygyria (HP:0001302); Exotropia (HP:0000577); Astigmatism (HP:0000483); Nystagmus (HP:0000639) 1 1 IMGAG
00263901 - - - M - - - - - - - ? Polyneuropathy (HP:0001271) 1 1 IMGAG
00275591 - - - M - - - - - - - ? Spastic paraplegia (HP:0001258) 1 1 IMGAG
00290769 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290770 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290771 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 15 Mohammed Faruq
00324664 173622 - - F ? Germany - - - - - SPG10 Lower limb spasticity, Spastic paraparesis, Spastic gait, Decreased vibratory sense in the lower limbs 1 1 Andreas Laner
00327003 - - - M - - - - - - - ? Ataxia (HP:0001251); Spastic paraplegia (HP:0001258) 1 1 IMGAG
00332421 - - - - - - - - - - - SPG10 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00398668 1141 PubMed: Ferese 2021 2-generation family, 2 affected siblings, affected mother M - Italy - >60y - - - SPG10 Peripheral neuropathy (HP:0009830), Spastic paraplegia (HP:0001258), No decreased nerve conduction velocity (-HP:0000762) 1 1 Yvet den Hartog
00410545 Pat7 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - - - - ? see paper; ..., onset adulthood, axonal polyneuropathy, spastic paraplegia, no family history 1 1 Johan den Dunnen
00432374 - - - - - - - - - - - ALS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00444162 - - - M ? Brazil - - - - - SPG - 1 1 Cynthia Silveira
00444163 - - - M ? Brazil - - - - - SPG - 1 1 Cynthia Silveira
00469038 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00472903 - - - M ? Spain - - - - - SPG10 Gait disturbance since birth; mother and brother also affected. Required orthopedic shoes as a child; unable to run. Worsening gait for over 10 years, with increased clumsiness in the right leg. Denies sensory disturbances. 1 1 Maria Elena García Paya
00472972 Fam9615172Pat69 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - CMT Febrile convulsions; Muscle weakness; Difficulty walking & climbing stairs; Facial weakness, mild; Muscle wasting; Hand tremor; Foot drop; Pes cavus; Abnormal gait; An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position) (based on HPO nomenclature). EMG-NCV: chronic demyelinating sensorimotor polyneuropathy 1 1 Johan den Dunnen
00473168 Fam104733Pat320 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - ataxia onset 4-5 month; Flat feet; Abnormal gait; Neuropathy, lower limbs; Spasticity, lower limbs; Ataxia; Feet deformity. 1 1 Johan den Dunnen
00473236 Fam111707Pat435 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M no Iran - - - - - CMT onset at the age 15y with lower limb neuropathy, distal; Hand tremor; Lower muscle weakness, due to neuropathy; Difficulty to walk on heels & tip-toes; EMG-NCV: compatible with chronic axonal sensorimotor polyneuropathy. No parental consanguinity, in the presence of family history suspected genetic etiology. 1 1 Johan den Dunnen
00473293 Fam202331Pat530 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - ALS onset 64y, Muscle weakness, extended from lower to upper limbs, lower>upper; Difficulty rising from seated position; Muscle atrophy; Imbalance; Dizziness; Speech problem; Dysarthria; Dysphagia, intermittent; Ataxia; EMG-NCV: early stage of MND. Consanguineous parents. 1 1 Johan den Dunnen
00473402 Fam208518Pat691 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - SMA Sporadic case, started 7y, muscle cramp after exercise, fasciculation, mild muscle atrophy in distal upper limb, no facial weakness, motor neuron disease reported in EDX, non specific white matter lesions reported in brain MRI 1 1 Johan den Dunnen
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