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 |