Tartaglia Lab, Genetics and Rare Diseases Research Division
(Bambino Gesu' Children's Hospital)
General information
Tartaglia Lab, Genetics and Rare Diseases Research Division
Bambino Gesu' Children's Hospital
Rome
Italy
Organization ID: 506429
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 109
Gene
| Gene | Submissions | Last Updated |
|---|
| ARF3 | 6 | Jul 20, 2022 |
| CDC42 | 4 | Nov 29, 2017 |
| CHD7 | 1 | Apr 13, 2023 |
| CLCN6 | 1 | Jul 30, 2020 |
| FOXP1 | 1 | Apr 13, 2023 |
| H1-4 | 8 | Jun 21, 2019 |
| HRAS | 1 | Nov 8, 2021 |
| KCNK4 | 2 | Aug 13, 2018 |
| KCNK4-CATSPERZ | 2 | Aug 13, 2018 |
| KIF5B | 3 | Jun 6, 2022 |
| LOC126806714 | 1 | Apr 13, 2023 |
| LOC126859661 | 1 | Sep 21, 2020 |
| LOC126860970 | 1 | Apr 30, 2018 |
| LOC130005368 | 3 | Apr 10, 2019 |
| LRRC56 | 1 | Nov 8, 2021 |
| MAPK1 | 7 | Apr 22, 2020 |
| POLR3A | 15 | May 2, 2018 |
| PTPN11 | 1 | Jan 13, 2022 |
| RAC1 | 2 | Nov 21, 2022 |
| RRAS2 | 5 | Apr 10, 2019 |
| SCUBE3 | 8 | Sep 21, 2020 |
| SHOC2 | 3 | Feb 3, 2022 |
| SPEN | 30 | Jan 7, 2021 |
| SPRED2 | 2 | Aug 23, 2021 |
| UBE2A | 6 | Mar 27, 2020 |
| VPS4A | 3 | Aug 14, 2020 |
Condition
| Name | Submissions | Last Updated | | Abnormal facial shape | 18 | Jun 6, 2022 |
| Abnormality of speech or vocalization | 1 | Jul 30, 2020 |
| Abnormality of temperature regulation | 1 | Jul 30, 2020 |
| Abnormality of the dentition | 8 | Sep 21, 2020 |
| Abnormality of the respiratory system | 1 | Jul 30, 2020 |
| Abnormality of the skeletal system | 8 | Sep 21, 2020 |
| Abnormality of the skin | 1 | Jul 30, 2020 |
| Abnormality of vision | 1 | Jul 30, 2020 |
| Atrophy/Degeneration affecting the central nervous system | 6 | Jul 20, 2022 |
| Atypical behavior | 7 | Apr 22, 2020 |
| Costello syndrome | 1 | Nov 8, 2021 |
| Dystonic disorder | 2 | Jul 20, 2022 |
| EEG abnormality | 1 | Jul 30, 2020 |
| Fatigable weakness of swallowing muscles | 1 | Jun 6, 2022 |
| Feeding difficulties | 2 | Jun 6, 2022 |
| Generalized hypertrichosis | 2 | Aug 13, 2018 |
| Gingival overgrowth | 2 | Aug 13, 2018 |
| Global developmental delay | 2 | Jun 6, 2022 |
| Heart, malformation of | 5 | Jul 20, 2022 |
| Hypotonia | 3 | Jul 20, 2022 |
| Intellectual disability | 16 | Jul 20, 2022 |
| Intellectual disability, autosomal dominant 48 | 2 | Nov 21, 2022 |
| Kyphosis | 1 | Jul 20, 2022 |
| Macrocephaly | 1 | Apr 22, 2020 |
| Microcephaly | 7 | Jul 20, 2022 |
| Motor delay | 1 | Jul 30, 2020 |
| Movement disorder | 1 | Jul 30, 2020 |
| Multiple joint contractures | 1 | Jun 6, 2022 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 15 | May 2, 2018 |
| Neurogenic bladder | 1 | Jul 30, 2020 |
| Noonan syndrome | 7 | Aug 23, 2021 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 3 | Feb 3, 2022 |
| Noonan-like syndrome | 1 | Nov 29, 2017 |
| Ophthalmoplegia | 1 | Jun 6, 2022 |
| Pectus excavatum | 1 | Jul 20, 2022 |
| Primary dilated cardiomyopathy | 1 | Jun 6, 2022 |
| Rahman syndrome | 8 | Jun 21, 2019 |
| Respiratory distress | 1 | Jun 6, 2022 |
| Scoliosis | 3 | Jul 20, 2022 |
| See cases | 2 | Apr 13, 2023 |
| Seizure | 5 | Jul 20, 2022 |
| Severe muscular hypotonia | 2 | Jun 6, 2022 |
| Short stature | 12 | Sep 21, 2020 |
| Skeletal myopathy | 1 | Jun 6, 2022 |
| Specific learning disability | 7 | Apr 22, 2020 |
| Syndromic X-linked intellectual disability Nascimento type | 6 | Mar 27, 2020 |
| Werner syndrome | 1 | Jan 13, 2022 |
| not provided | 36 | Jan 7, 2021 |
