OPHN1 Chromosome X
Oligophrenin 1
Upload your DNA to see your personal genotypes for variants in OPHN1.
What This Gene Does
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
AH/BAR family Rho GTPase activating proteins
Locus Type
gene with protein product
Location
Xq12
Ensembl
ENSG00000079482
Associated Conditions (11)
X-linked intellectual disability-cerebellar hypoplasia syndrome
Inborn genetic diseases
See cases
OPHN1-related disorder
Thyroid cancer
nonmedullary
1
Intellectual disability
6 conditions
Seizure
Abnormality of the nervous system
Key Variants
RS1030545345
Conflicting classifications of pathogenicity
X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
Health Risk
RS1297484256
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1403350105
Conflicting classifications of pathogenicity
Health Risk
RS143713841
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, OPHN1-related disorder
Health Risk
RS150084635
Conflicting classifications of pathogenicity
Health Risk
RS2078892867
Conflicting classifications of pathogenicity
X-linked intellectual disability-cerebellar hypoplasia syndrome, Inborn genetic diseases, X-linked intellectual disability-cerebellar hypoplasia syndrome
Health Risk
RS368803937
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 1
Health Risk
RS369382527
Conflicting classifications of pathogenicity
OPHN1-related disorder, OPHN1-related disorder
Health Risk
RS370209377
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374431961
Conflicting classifications of pathogenicity
X-linked intellectual disability-cerebellar hypoplasia syndrome, Inborn genetic diseases, OPHN1-related disorder
Health Risk
RS375325266
Conflicting classifications of pathogenicity
X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
Health Risk
RS376148458
Conflicting classifications of pathogenicity
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555952648 | Health Risk | Pathogenic | — |
| RS1555988317 | Health Risk | Pathogenic | — |
| RS1569211016 | Health Risk | Pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS1569215382 | Health Risk | Pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS1569243931 | Health Risk | Pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS1569244467 | Health Risk | Pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS1602226670 | Health Risk | Pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS1602231165 | Health Risk | Pathogenic | — |
| RS2077495517 | Health Risk | Pathogenic | — |
| RS2077499942 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2147349266 | Health Risk | Pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS2147370935 | Health Risk | Pathogenic | — |
| RS2147457199 | Health Risk | Pathogenic | — |
| RS2147462360 | Health Risk | Pathogenic | Seizure, Seizure |
| RS2147481899 | Health Risk | Pathogenic | — |
| RS2147484573 | Health Risk | Pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS2147594453 | Health Risk | Pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS2147627388 | Health Risk | Pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS2519631746 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519784160 | Health Risk | Pathogenic | — |
| RS2519794124 | Health Risk | Pathogenic | — |
| RS2519799380 | Health Risk | Pathogenic | — |
| RS2519907547 | Health Risk | Pathogenic | — |
| RS587784234 | Health Risk | Pathogenic | X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS886044499 | Health Risk | Pathogenic | — |
| RS2147523877 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the nervous system, X-linked intellectual disability-cerebellar hypoplasia syndrome, Abnormality of the nervous system |