EuRBPDB2 File List
| Ensembl ID | Gene symbol | Open Targets Genetics | Clinvar | Gene Burden | Genomics england panel | Gene2Phenotype | UniProt literature | Uniprot variants | Clingen | Orphanet |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000172432 | GTPBP2 | OTG | EVA | N.A. | GEP | G2P | UL | N.A. | N.A. | N.A. |
Showing 1 to 1 of 1 entries
- Open Targets Genetics
- Clinvar
- Gene Burden
- Genomics england panel
- Gene2Phenotype
- UniProt literature
- UniProt variants
- Clingen
- Orphanet
| Disease/phenotype | Publication | Variant ID | P-value | L2G score | Sample size |
|---|---|---|---|---|---|
| Body mass index | Barton AR et al, 2021 | 6_43636430_A_G (rs35679149) | 3.100e-11 | 0.0559 | 457756 |
| Body mass index (bmi) | NA | 6_43620490_T_A | 8.088e-10 | 0.057 | 354831 |
| Leg fat mass (left) | NA | 6_43620490_T_A | 1.073e-09 | 0.0603 | 354788 |
| Leg fat mass (right) | NA | 6_43620490_T_A | 1.726e-09 | 0.0608 | 354807 |
| Body mass index (bmi) | NA | 6_43620490_T_A | 1.745e-09 | 0.0504 | 359983 |
| Trunk fat mass | NA | 6_43796814_C_T (rs1358980) | 3.185e-09 | 0.0525 | 354597 |
| Weight | NA | 6_43620490_T_A | 5.213e-09 | 0.114 | 354838 |
| Mean corpuscular hemoglobin concentration | Chen MH et al, 2020 | 6_43789345_T_A (rs4711750) | 6.730e-09 | 0.0969 | 491553 |
| Arm predicted mass (left) | NA | 6_43620490_T_A | 4.450e-08 | 0.0561 | 354653 |
Showing 1 to 9 of 9 entries
| Disease/phenotype | Variant ID (RSID) | rsID | HGVS ID | ClinVar ID | Clinical significance | Review status |
|---|---|---|---|---|---|---|
| Inborn genetic diseases | 6_43629111_C_A | NA | NC_000006.12:g.43629111C>A | RCV002703739 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 6_43628998_G_T | NA | NC_000006.12:g.43628998G>T | RCV002563478 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 6_43629096_C_G | NA | NC_000006.12:g.43629096C>G | RCV002693899 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 6_43622029_C_A | NA | NC_000006.12:g.43622029C>A | RCV003079345 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 6_43622089_C_T | NA | NC_000006.12:g.43622089C>T | RCV002954781 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 6_43622700_C_G | NA | NC_000006.12:g.43622700C>G | RCV002717844 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 6_43626265_A_G | NA | NC_000006.12:g.43626265A>G | RCV002936539 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 6_43626238_C_T | NA | NC_000006.12:g.43626238C>T | RCV002865898 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 6_43626263_G_C | NA | NC_000006.12:g.43626263G>C | RCV002607554 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 6_43629086_T_G | NA | NC_000006.12:g.43629086T>G | RCV002698921 | uncertain significance | criteria provided, single submitter |
Showing 1 to 10 of 33 entries
| Disease/phenotype | Allelic Requirement | Genomics England Panel | Confidence category | Literature |
|---|---|---|---|---|
| Global developmental delay | BIALLELIC, autosomal or pseudoautosomal | Intellectual disability | green | 3 |
| Global developmental delay | BIALLELIC, autosomal or pseudoautosomal | Genetic epilepsy syndromes | green | 3 |
| Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | Intellectual disability | green | 3 |
| Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | Genetic epilepsy syndromes | green | 3 |
| Jaberi-Elahi syndrome | BIALLELIC, autosomal or pseudoautosomal | Adult onset movement disorder | green | 0 |
| Jaberi-Elahi syndrome | BIALLELIC, autosomal or pseudoautosomal | Childhood onset dystonia or chorea or related movement disorder | green | 0 |
| Jaberi-Elahi syndrome | BIALLELIC, autosomal or pseudoautosomal | Genetic epilepsy syndromes | green | 3 |
| Jaberi-Elahi syndrome | BIALLELIC, autosomal or pseudoautosomal | Intellectual disability | green | 3 |
| Jaberi-Elahi syndrome | BIALLELIC, autosomal or pseudoautosomal | Severe Paediatric Disorders | green | 1 |
| Seizures | BIALLELIC, autosomal or pseudoautosomal | Genetic epilepsy syndromes | green | 3 |
Showing 1 to 10 of 11 entries
| g2p/phenotype | Functional consequence | Allelic requirement | Panel | Confidence | Literature |
|---|---|---|---|---|---|
| JABERI-ELAHI SYNDROME | SO_0002317 | biallelic_autosomal | DD | definitive | 30790272;26675814;29449720 |
Showing 1 to 1 of 1 entries
| Disease/phenotype | Reported protein | Confidence | Literature |
|---|---|---|---|
| Jaberi-Elahi syndrome | Q9BX10 | high | 29449720;26675814 |
Showing 1 to 1 of 1 entries