All individuals with variants in gene KIF1C

13 entries on 1 page. Showing entries 1 - 13.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00095132 - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents, patient 789IV-1 F yes - - - - added by student Anneliz de Leeuw - neuropathy (CCT5) Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann's sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), No spinal abnormalities (-HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668), Ptosis (HP:0000508) 1 4 Johan den Dunnen
00095133 - PubMed: Novarino 2014, Journal: Novarino 2014 brother of 789IV-1 M yes - - - - added by student Anneliz de Leeuw - neuropathy (CCT5) Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann's sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), Unknown spinal abnormalities (?HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668) 1 1 Johan den Dunnen
00095134 - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents, patient 803IV-1 F yes - - - - added by student Rachel van Loo - SPAX2;SPG58 Short stature (HP:0004322), Decreased head circumference (HP:0040195), Intention tremor (HP:0002080), Lower limb hyperreflexia (HP:0002395), Clonus (HP:0002169), Poor fine motor coordination (HP:0007010), Spasticity (HP:0001257), Toe walking (HP:0040083), Dysarthria (HP:0001260), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), No abnormality of skeletal morphology (-HP:0011842), No sphincter disturbances (-HP:0002839), No decreased Vibration sense at ankles (-HP:0006938), No white matter abnormalities (-HP:0002500), No abnormality of the spinal cord (-HP:0002143), No intellectual disability (-HP:0001249), No sensory impairment (-HP:0003474) 1 2 Johan den Dunnen
00095135 - PubMed: Gaia Novarino 2014 sister of 803IV-1 F yes - - - - added by student Rachel van Loo - SPAX2;SPG58 Short stature (HP:0004322), Decreased head circumference (HP:0040195), Lower limb hyperreflexia (HP:0002395), Clonus (HP:0002169), Unsteady gate (HP:0002317), Dysarthria (HP:0001260), Toe walking (HP:0040083), Spasticity (HP:0001257), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), No abnormality of skeletal morphology (-HP:0011842), No sphincter disturbances (-HP:0002839), No decreased Vibration sense at ankles (-HP:0006938), No white matter abnormalities (-HP:0002500), No abnormality of the spinal cord (-HP:0002143), No intellectual disability (-HP:0001249), No sensory impairment (-HP:0003474) 1 1 Johan den Dunnen
00095147 - PubMed: Novarino 2014, Journal: Novarino 2014 5-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents F;M yes - - - - - - ? see paper; … 1 4 Johan den Dunnen
00144672 - - - M - (Germany) - - - - - ? HP:0001258 (Spastic paraplegia) 2 1 IMGAG
00164422 - - - F - (Germany) - - - - - ? Spastic ataxia (HP:0002497); Limb ataxia (HP:0002070); Head tremor (HP:0002346) 2 1 IMGAG
00291790 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 171 Mohammed Faruq
00291791 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00291792 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00304591 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00411970 Fam2 PubMed: Wu 2012 3-generation family, 11 affected - - - Jew-Sephardic - - - - ALS see paper; ..., limb onset (no bulbar onset) 1 11 Johan den Dunnen
00469036 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.