Gene table



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

VAMP1
vesicle associated membrane protein (synaptobrevin 1)



12p13
* ataxia, spastic, 1, autosomal dominant - SPAX1 (11.34, 15.67)
* Presynaptic congenital myasthenic syndrome - (11.34, 15.67)

VAPB
Vesicle-associated membrane protein-associated protein B and C



7p15
* Spinal muscular atrophy, late-onset, Finkel type - SMAFK (12.32, 12.46)
* Amyotrophic lateral sclerosis - ALS8 (12.32, 12.46)

VCL
Vinculin



10q22.1-q23
* Cardiomyopathy, dilated, 1W - CMD1W (10.14, 10.54)
* Cardiomyopathy, familial hypertrophic, 15 - CMH15 (10.14, 10.54)

VCP
Valosin-containing protein



9p13-p12
* Distal myopathy related to VCP - IBMPFD (1.48, 4.17, 5.25, 12.52, 14.61)
* Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD (1.48, 4.17, 5.25, 12.52, 14.61)
* Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 (1.48, 4.17, 5.25, 12.52, 14.61)
* Scapuloperoneal muscular dystrophy and dropped head syndrome - (1.48, 4.17, 5.25, 12.52, 14.61)
* Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y (1.48, 4.17, 5.25, 12.52, 14.61)

VMA21
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



Xq28
* Myopathy, X-linked, with excessive autophagy - XMEA (5.13)

VPS37A
Vacuolar protein sorting-associated protein 37A



8p22
* Spastic paraplegia 53, autosomal recessive - SPG53 (15.48)

VRK1
Vaccinia related kinase 1



14q32
* Pontocerebellar hypoplasia type 1 - PCH1 (12.72, 14.104)
* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge - (12.72, 14.104)