All individuals with variants in gene VPS13C

4 entries on 1 page. Showing entries 1 - 4.
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     
00065163 26942284-FamA-PatV2 PubMed: Lesage 2016, Journal: Lesage 2016 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - >54y 0 - - PD depression (HP:0000716), asymmetric akinetic rigid syndrome, no dystonia (-HP:0007325), no dyskinesia (-HP:0100660), early mental deterioration (HP:0001268), spatial disorientation (HP:0001289), slurred speech (HP:0001350), hallucinations (HP:0000738), dysautonomia (HP:0002459), urinary incontinence (HP:0000020), loss of speech (HP:0002371), Apathy (HP:0000741), Dysphagia (HP:0002015), Cachexia (HP:0004326), hyperactive deep tendon reflexes (HP:0006801), no pyramidal syndrome (-HP:0002071), asymmetric atrophy in frontal, parietal and temporal areas at expense of left side (HP:0002283) 1 1 Pieter Klap
00065167 26942284-FamBPatII1 PubMed: Lesage 2016, Journal: Lesage 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M no France - 49y 0 - - PD asymetric akineto rigid syndrome, Resting tremor (HP:0002322), limb dystonia (HP:0002451), dyskinesia (HP:0100660), mental deterioration (HP:0001268), dysautonomia (HP:0002459), pyramidal syndrome (HP:0002071), limb atrophy (HP:0007126); death due to aspiration pneumonia (HP:0011951) 2 1 Pieter Klap
00065171 26942284 II-1- Family C PubMed: Lesage 2016, Journal: Lesage 2016 2-generation family, 1 affected, unaffected non-carrier mother (father deceased) F no France - >25y 0 - - PD asymetric akineto rigid syndrome, limb dystonia (HP:0002451), no dyskinesia (HP:0100660), mental deterioration (HP:0001268), slurred speech (HP:0001350), spastic tetraplegia (HP:0002510), normal MRI 2 1 Pieter Klap
00164366 II-1 - - F yes Iran - - 0 - - PARK-23 - 1 1 Coro Paisan-Ruiz
Legend   How to query