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 |
|---|---|---|---|
| RS760699878 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS761000380 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS765998625 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS766753209 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS768925221 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS771066341 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS77134982 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS776561735 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS778853521 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS780578894 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS867638588 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS886042289 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886046497 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1405080200 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS1440168275 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS1441260635 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1553174500 | Health Risk | Likely pathogenic | Glioma susceptibility 1, Glioma susceptibility 1 |
| RS1569845887 | Health Risk | Likely pathogenic | — |
| RS1644506661 | Health Risk | Likely pathogenic | Juvenile amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis |
| RS1644545351 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2148585199 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2148627334 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523115231 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523120586 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523136653 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523138636 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523149242 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS2523157602 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS910474236 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS1266507622 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS1349734606 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1391733497 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1435710212 | Health Risk | Pathogenic | Juvenile amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis |
| RS1456598112 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS1553175760 | Health Risk | Pathogenic | Spinal muscular atrophy, facioscapulohumeral type, Spinal muscular atrophy |
| RS1569875704 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS1644488970 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS1644525008 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1644549927 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1644550472 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS1644591704 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS1644626732 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS1644651573 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS2148578668 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2148591365 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS2523102829 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523104783 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523111990 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy, distal hereditary motor |
| RS2523112831 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |
| RS2523115662 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 4 |