PLEKHG5 Chromosome 1
Pleckstrin homology and RhoGEF domain containing G5
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What This Gene Does
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
1p36.31
Ensembl
ENSG00000171680
Associated Conditions (15)
Neuronopathy
distal hereditary motor
autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Inborn genetic diseases
PLEKHG5-related disorder
Hereditary neuropathy or pain disorder
Peripheral neuropathy
Hereditary motor neuron disease
Glioma susceptibility 1
Juvenile amyotrophic lateral sclerosis
Hereditary spastic paraplegia
Spinal muscular atrophy
facioscapulohumeral type
Autosomal recessive PLEKHG5-related disorders
Key Variants
RS1033319065
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 4
Health Risk
RS111624565
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 4
Health Risk
RS112530241
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor
Health Risk
RS113541584
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 4
Health Risk
RS1281567980
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 4
Health Risk
RS1315270235
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor
Health Risk
RS1365704916
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor
Health Risk
RS139041955
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor
Health Risk
RS140202670
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 4
Health Risk
RS141032388
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 4
Health Risk
RS143484278
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 4
Health Risk
RS144245744
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 4
Health Risk
All Variants (130)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2523116140 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523127742 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS2523128047 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS2523130148 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523130896 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523146589 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS2523146735 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523157542 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523168175 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523168546 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523172908 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523210552 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS2523229122 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS376900021 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS397515454 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS397515455 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS775517465 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS778854412 | Health Risk | Pathogenic | Inborn genetic diseases, Neuronopathy, distal hereditary motor |
| RS972569803 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1199089543 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy |
| RS1443592761 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS1553174566 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1557742277 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Charcot-Marie-Tooth disease recessive intermediate C |
| RS184242303 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS750665866 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS759212541 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS760122001 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS770593694 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS772217003 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS773188120 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |