PLEKHG2 Chromosome 19
Pleckstrin homology and RhoGEF domain containing G2
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What This Gene Does
The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000090924
Associated Conditions (3)
PLEKHG2-related disorder
Leukodystrophy and acquired microcephaly with or without dystonia
Abnormal brain morphology
Key Variants
RS114741660
Conflicting classifications of pathogenicity
Health Risk
RS139883194
Conflicting classifications of pathogenicity
PLEKHG2-related disorder, PLEKHG2-related disorder
Health Risk
RS141910004
Conflicting classifications of pathogenicity
Health Risk
RS146599917
Conflicting classifications of pathogenicity
Health Risk
RS200143824
Conflicting classifications of pathogenicity
PLEKHG2-related disorder, PLEKHG2-related disorder
Health Risk
RS201201843
Conflicting classifications of pathogenicity
Leukodystrophy and acquired microcephaly with or without dystonia, PLEKHG2-related disorder, Leukodystrophy and acquired microcephaly with or without dystonia
Health Risk
RS201638338
Conflicting classifications of pathogenicity
Health Risk
RS368379229
Conflicting classifications of pathogenicity
Health Risk
RS370673772
Conflicting classifications of pathogenicity
Abnormal brain morphology, Abnormal brain morphology
Health Risk
RS372208970
Conflicting classifications of pathogenicity
Leukodystrophy and acquired microcephaly with or without dystonia, Leukodystrophy and acquired microcephaly with or without dystonia
Health Risk
RS554874064
Conflicting classifications of pathogenicity
PLEKHG2-related disorder, PLEKHG2-related disorder
Health Risk
RS557254350
Conflicting classifications of pathogenicity
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114741660 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139883194 | Health Risk | Conflicting classifications of pathogenicity | PLEKHG2-related disorder, PLEKHG2-related disorder |
| RS141910004 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146599917 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200143824 | Health Risk | Conflicting classifications of pathogenicity | PLEKHG2-related disorder, PLEKHG2-related disorder |
| RS201201843 | Health Risk | Conflicting classifications of pathogenicity | Leukodystrophy and acquired microcephaly with or without dystonia, PLEKHG2-related disorder, Leukodystrophy and acquired microcephaly with or without dystonia |
| RS201638338 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368379229 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370673772 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, Abnormal brain morphology |
| RS372208970 | Health Risk | Conflicting classifications of pathogenicity | Leukodystrophy and acquired microcephaly with or without dystonia, Leukodystrophy and acquired microcephaly with or without dystonia |
| RS554874064 | Health Risk | Conflicting classifications of pathogenicity | PLEKHG2-related disorder, PLEKHG2-related disorder |
| RS557254350 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS571854709 | Health Risk | Conflicting classifications of pathogenicity | PLEKHG2-related disorder, PLEKHG2-related disorder |
| RS748396149 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766958827 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2514447074 | Health Risk | Likely pathogenic | Leukodystrophy and acquired microcephaly with or without dystonia, Leukodystrophy and acquired microcephaly with or without dystonia |