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

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 30

Gene

GeneSubmissionsLast Updated
BTBD91Sep 28, 2018
CACNB21Jun 28, 2018
CEP85L1Jun 8, 2018
COG72Jul 12, 2018
DDC1Mar 6, 2019
HDAC81Aug 23, 2019
IMMP2L1Jun 8, 2018
MED252Feb 28, 2019
NR2F21Jul 5, 2018
PRPF81Jul 2, 2020
SMC31Nov 19, 2018
SND11May 16, 2019
SOX21Apr 30, 2020
SOX2-OT1Apr 30, 2020
SOX41Feb 27, 2019
TGFBR11Mar 14, 2019
THPO1May 14, 2020
UBR51May 20, 2019

Condition

NameSubmissionsLast Updated
Abnormality of esophagus physiology2May 16, 2019
Absent speech1May 16, 2019
Attention deficit hyperactivity disorder1Jun 8, 2018
Autism spectrum disorder1Jun 28, 2018
Autistic behavior1May 16, 2019
Basel-Vanagaite-Smirin-Yosef syndrome2Feb 28, 2019
Behavioral abnormality2Jun 8, 2018
Bilateral conductive hearing impairment2May 16, 2019
Bilateral cryptorchidism1May 20, 2019
Blepharophimosis1May 16, 2019
Broad forehead1May 20, 2019
Broad hallux phalanx1May 20, 2019
COG7 congenital disorder of glycosylation2Jul 12, 2018
Clinodactyly of the 5th finger1May 16, 2019
Congenital aniridia1Apr 30, 2020
Congenital heart defects, multiple types, 41Jul 5, 2018
Cornelia de Lange syndrome 51Aug 23, 2019
Deficiency of aromatic-L-amino-acid decarboxylase1Mar 6, 2019
Delayed speech and language development4May 20, 2019
Ebstein anomaly of the tricuspid valve1Jun 8, 2018
Failure to thrive in infancy1Jun 8, 2018
Global developmental delay1Jun 8, 2018
Growth hormone deficiency1Jun 8, 2018
Hypotelorism1Jun 8, 2018
Infantile muscular hypotonia1Jun 8, 2018
Intellectual disability2Nov 19, 2018
Intellectual disability, mild7May 16, 2019
Intrauterine growth retardation2May 16, 2019
Low-set ears1Jun 8, 2018
Mandibular prognathia2May 16, 2019
Marfan syndrome1Mar 14, 2019
Moderate global developmental delay1Jun 8, 2018
Narrow mouth1May 16, 2019
Narrow nasal bridge2May 16, 2019
Postnatal microcephaly1Jun 8, 2018
Prominent nasal bridge1Jun 8, 2018
Retinitis pigmentosa 141Jul 2, 2020
Robin sequence2May 16, 2019
Sandal gap1May 20, 2019
Seizures4May 20, 2019
Short philtrum2May 16, 2019
Tall stature1May 20, 2019
Thick eyebrow1May 20, 2019
Thrombocythemia 11May 14, 2020
Underdeveloped nasal alae1Jun 8, 2018
Upslanted palpebral fissure1May 16, 2019
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