Medical Genetics Lab
(Policlinico S. Orsola.Malpighi), UOGM
General information
Medical Genetics Lab, UOGM
Policlinico S. Orsola.Malpighi
Via Massarenti 9, Padiglione 11
Bologna
Emilia-Romagna
Italy - 40138
Organization ID: 506592
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 30
Gene
| Gene | Submissions | Last Updated |
|---|
| BTBD9 | 1 | Sep 28, 2018 |
| CACNB2 | 1 | Jun 28, 2018 |
| CEP85L | 1 | Jun 8, 2018 |
| COG7 | 2 | Jul 12, 2018 |
| DDC | 1 | Mar 6, 2019 |
| HDAC8 | 1 | Aug 23, 2019 |
| IMMP2L | 1 | Jun 8, 2018 |
| LOC108281177 | 1 | Apr 30, 2020 |
| LOC130002223 | 1 | Mar 14, 2019 |
| LOC130058658 | 1 | Jul 12, 2018 |
| MED25 | 2 | Feb 28, 2019 |
| NR2F2 | 1 | Jul 5, 2018 |
| PRPF8 | 1 | Jul 2, 2020 |
| SMC3 | 1 | Nov 19, 2018 |
| SND1 | 1 | May 16, 2019 |
| SOX2 | 1 | Apr 30, 2020 |
| SOX2-OT | 1 | Apr 30, 2020 |
| SOX4 | 1 | Feb 27, 2019 |
| TGFBR1 | 1 | Mar 14, 2019 |
| THPO | 1 | May 14, 2020 |
| UBR5 | 1 | May 20, 2019 |
Condition
| Name | Submissions | Last Updated | | Abnormal esophagus physiology | 2 | May 16, 2019 |
| Absent speech | 1 | May 16, 2019 |
| Attention deficit hyperactivity disorder | 1 | Jun 8, 2018 |
| Atypical behavior | 2 | Jun 8, 2018 |
| Autism spectrum disorder | 1 | Jun 28, 2018 |
| Autistic behavior | 1 | May 16, 2019 |
| Bilateral conductive hearing impairment | 2 | May 16, 2019 |
| Bilateral cryptorchidism | 1 | May 20, 2019 |
| Blepharophimosis | 1 | May 16, 2019 |
| Broad forehead | 1 | May 20, 2019 |
| Broad hallux phalanx | 1 | May 20, 2019 |
| COG7 congenital disorder of glycosylation | 2 | Jul 12, 2018 |
| Clinodactyly of the 5th finger | 1 | May 16, 2019 |
| Congenital aniridia | 1 | Apr 30, 2020 |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 2 | Feb 28, 2019 |
| Congenital heart defects, multiple types, 4 | 1 | Jul 5, 2018 |
| Cornelia de Lange syndrome 5 | 1 | Aug 23, 2019 |
| Decreased response to growth hormone stimulation test | 1 | Jun 8, 2018 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Mar 6, 2019 |
| Delayed speech and language development | 4 | May 20, 2019 |
| Ebstein anomaly | 1 | Jun 8, 2018 |
| Failure to thrive in infancy | 1 | Jun 8, 2018 |
| Fetal growth restriction | 2 | May 16, 2019 |
| Global developmental delay | 1 | Jun 8, 2018 |
| Hypotelorism | 1 | Jun 8, 2018 |
| Infantile muscular hypotonia | 1 | Jun 8, 2018 |
| Intellectual disability | 2 | Nov 19, 2018 |
| Intellectual disability, mild | 7 | May 16, 2019 |
| Isolated Pierre-Robin syndrome | 2 | May 16, 2019 |
| Low-set ears | 1 | Jun 8, 2018 |
| Mandibular prognathia | 2 | May 16, 2019 |
| Marfan syndrome | 1 | Mar 14, 2019 |
| Moderate global developmental delay | 1 | Jun 8, 2018 |
| Narrow mouth | 1 | May 16, 2019 |
| Narrow nasal bridge | 2 | May 16, 2019 |
| Prominent nasal bridge | 1 | Jun 8, 2018 |
| Retinitis pigmentosa 14 | 1 | Jul 2, 2020 |
| Sandal gap | 1 | May 20, 2019 |
| Secondary microcephaly | 1 | Jun 8, 2018 |
| Seizure | 4 | May 20, 2019 |
| Short philtrum | 2 | May 16, 2019 |
| Tall stature | 1 | May 20, 2019 |
| Thick eyebrow | 1 | May 20, 2019 |
| Thrombocythemia 1 | 1 | May 14, 2020 |
| Underdeveloped nasal alae | 1 | Jun 8, 2018 |
| Upslanted palpebral fissure | 1 | May 16, 2019 |
