Laboratory of Medical Genetics Unit (Bambino Gesù Children's Hospital), OPBG
General information
Laboratory of Medical Genetics Unit, OPBG
Bambino Gesù Children's Hospital
Viale San Paolo 15
Roma
Lazio
Italy - 00146
Organization ID: 506277
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 169
Gene
| Gene | Submissions | Last Updated |
|---|
| ALG12 | 2 | Jul 23, 2019 |
| ALK | 2 | Jul 14, 2023 |
| APC | 5 | Oct 31, 2024 |
| ATM | 7 | Oct 31, 2024 |
| BRAF | 1 | Oct 30, 2024 |
| BRCA1 | 5 | Jan 28, 2026 |
| BRCA2 | 17 | Feb 26, 2026 |
| C11orf65 | 3 | Oct 30, 2024 |
| CASP10 | 1 | Jul 15, 2023 |
| CDH1 | 1 | Jul 14, 2023 |
| CDK4 | 1 | Jul 15, 2023 |
| CHEK2 | 1 | Jul 15, 2023 |
| CLCN3 | 1 | Jan 21, 2021 |
| COL4A5 | 1 | May 6, 2024 |
| DICER1 | 3 | Oct 31, 2024 |
| DRC4 | 1 | Nov 22, 2023 |
| EGFR | 4 | Jul 17, 2023 |
| EIF4A2 | 1 | Feb 24, 2022 |
| ELP1 | 1 | Jan 28, 2026 |
| EPCAM | 1 | Jul 15, 2023 |
| ERBB2 | 1 | Jul 14, 2023 |
| FANCA | 3 | Oct 29, 2024 |
| FANCC | 1 | Aug 6, 2024 |
| FGFR3 | 1 | Jul 15, 2023 |
| IDH1 | 2 | Jul 15, 2023 |
| IFNAR2 | 2 | Aug 11, 2020 |
| IFNAR2-IL10RB | 2 | Aug 11, 2020 |
| IGF2 | 1 | Dec 29, 2023 |
| INS-IGF2 | 1 | Dec 29, 2023 |
| KDM4B | 1 | Oct 29, 2020 |
| KDM5B | 1 | Jul 15, 2023 |
| LOC126806433 | 1 | May 19, 2023 |
| LOC129935183 | 1 | May 19, 2023 |
| LOC130009266 | 1 | Oct 30, 2024 |
| LZTR1 | 4 | Oct 31, 2024 |
| MEN1 | 1 | Jul 15, 2023 |
| MLH3 | 1 | Oct 31, 2024 |
| MLKL | 1 | Jul 11, 2025 |
| MSH2 | 1 | Oct 30, 2024 |
| MSH3 | 3 | Oct 31, 2024 |
| MSH6 | 1 | Jul 14, 2023 |
| MUTYH | 15 | Jan 27, 2026 |
| NBN | 4 | Oct 30, 2024 |
| NF1 | 9 | Oct 30, 2024 |
| NOD2 | 1 | Apr 11, 2025 |
| NOTCH3 | 1 | Jan 19, 2023 |
| NOTCH4 | 1 | Jan 25, 2023 |
| PALB2 | 3 | Oct 30, 2024 |
| PINK1 | 1 | Nov 27, 2023 |
| PINK1-AS | 1 | Nov 27, 2023 |
| PMS2 | 1 | Jul 14, 2023 |
| POC1A | 2 | Oct 8, 2020 |
| POLE | 6 | Oct 31, 2024 |
| POT1 | 2 | Jul 20, 2023 |
| PTCH2 | 1 | Jul 14, 2023 |
| RAD50 | 3 | Jan 28, 2026 |
| RAD51B | 1 | Jul 14, 2023 |
| RAD51D | 4 | Jan 28, 2026 |
| RAD51L3-RFFL | 4 | Jan 28, 2026 |
| RAD52 | 1 | Jan 28, 2026 |
| RAD54L | 5 | Feb 2, 2026 |
| RET | 1 | Jul 14, 2023 |
| SAMD9 | 1 | Jul 15, 2023 |
| SDHA | 3 | Sep 20, 2024 |
| SDHC | 1 | Dec 3, 2023 |
| SLC30A10 | 1 | Jan 3, 2024 |
| SMARCA4 | 1 | Jul 14, 2023 |
| TNFAIP3 | 1 | Nov 5, 2021 |
| TP53 | 5 | Jan 27, 2026 |
| TSC2 | 1 | Jul 14, 2023 |
| TSPAN31 | 1 | Jul 15, 2023 |
| TTN | 10 | May 19, 2023 |
| TTN-AS1 | 5 | May 19, 2023 |
| VHL | 1 | Jul 15, 2023 |
| WAC | 1 | Sep 20, 2024 |
Condition
| Name | Submissions | Last Updated | | ALG12-congenital disorder of glycosylation | 2 | Jul 23, 2019 |
| Anaplastic/large cell medulloblastoma | 3 | Jan 28, 2026 |
| Astroblastoma, MN1-altered | 2 | Jul 14, 2023 |
| Astrocytoma IDH-mutant | 7 | Oct 31, 2024 |
| Autoinflammatory syndrome, familial, Behcet-like | 1 | Nov 5, 2021 |
| BRCA2-related cancer predisposition | 1 | Aug 6, 2024 |
| Blau syndrome | 1 | Apr 11, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 1 | Jan 19, 2023 |
| Cerebral arteriovenous malformation | 1 | Jan 25, 2023 |
| Childhood kidney cell carcinoma | 1 | Oct 31, 2024 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Sep 20, 2024 |
| Diffuse hemispheric glioma, H3 G34-mutant | 1 | Jul 15, 2023 |
| Diffuse midline glioma, H3 K27-altered | 44 | Nov 15, 2024 |
| Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | 16 | Oct 30, 2024 |
| Dysembryoplastic neuroepithelial tumor | 1 | Jan 20, 2026 |
| Early-onset myopathy with fatal cardiomyopathy | 10 | May 19, 2023 |
| Ependymoma | 2 | Jan 28, 2026 |
| Fanconi anemia complementation group C | 1 | Aug 6, 2024 |
| Germ cell tumor | 2 | Feb 2, 2026 |
| Hereditary cancer-predisposing syndrome | 1 | Aug 6, 2024 |
| High-grade astrocytoma with piloid features | 2 | Oct 31, 2024 |
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 1 | Jan 3, 2024 |
| Infant-type hemispheric glioma | 2 | Jan 20, 2026 |
| Inflammatory bowel disease | 1 | Jul 11, 2025 |
| Inflammatory bowel disease 1 | 1 | Apr 11, 2025 |
| Low grade glioma | 5 | Jan 28, 2026 |
| Malignant glioma | 4 | Oct 30, 2024 |
| Medulloblastoma | 7 | Jan 28, 2026 |
| Medulloblastoma SHH activated and TP53 wild-type | 3 | Jan 28, 2026 |
| Medulloblastoma non-WNT/non-SHH | 1 | Jan 28, 2026 |
| Meningioma | 1 | Jan 28, 2026 |
| Mismatch repair cancer syndrome 3 | 1 | Jul 14, 2023 |
| Neoplasm of brain | 2 | Sep 20, 2024 |
| Neuroblastoma | 2 | Dec 3, 2023 |
| Neurodevelopmental delay | 3 | Feb 24, 2022 |
| Neuroepithelial neoplasm | 1 | Oct 30, 2024 |
| Neuroepithelial tumor, PATZ1 fusion-positive | 2 | Jul 14, 2023 |
| Neurofibrmatosis type 1 | 1 | Jul 20, 2023 |
| Neurofibromatosis, type 1 | 3 | Jul 20, 2023 |
| POC1A-related syndrome | 2 | Oct 8, 2020 |
| Pediatric high-grade glioma | 6 | Oct 31, 2024 |
| Pilocytic astrocytoma | 14 | Feb 26, 2026 |
| Pleomorphic xanthoastrocytoma BRAF mutant | 1 | Jan 20, 2026 |
| Polymorphous low grade neuroepithelial tumor of the young | 1 | Jan 28, 2026 |
| Primary ciliary dyskinesia 33 | 1 | Nov 22, 2023 |
| Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | 2 | Aug 11, 2020 |
| Silver-Russell syndrome 3 | 1 | Dec 29, 2023 |
| X-linked Alport syndrome | 1 | May 6, 2024 |
