PLEKHG5 Chromosome 1
Pleckstrin homology and RhoGEF domain containing G5
Upload your DNA to see your personal genotypes for variants in PLEKHG5.
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 |
|---|---|---|---|
| RS1033319065 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS111624565 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS112530241 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS113541584 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1281567980 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1315270235 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS1365704916 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS139041955 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS140202670 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS141032388 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS143484278 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS144245744 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS144750655 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS144859183 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS148232621 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS150807400 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1553173393 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1644540599 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PLEKHG5-related disorder, Neuronopathy |
| RS184541137 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS199794578 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS200162521 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS200424270 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201669114 | Health Risk | Conflicting classifications of pathogenicity | Peripheral neuropathy, PLEKHG5-related disorder, Peripheral neuropathy |
| RS202191898 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS367560509 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS369876443 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS370572859 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS370666430 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS373184968 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS373880458 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS376237905 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS376823275 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS386628081 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS538561788 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS550362834 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS556687525 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS575792064 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS59117380 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS63750315 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS72861528 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS746822140 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS747418024 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS747761762 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS749891873 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS753593088 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS755539639 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS755699992 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS758214289 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS759272412 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS760139855 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |