The Raphael Recanati Genetics Institute (Rabin Medical Center)
General information
The Raphael Recanati Genetics Institute
Rabin Medical Center
Jabotinsky St. 39
Petah Tikva
Israel - 49100
https://hospitals.clalit.co.il/rabin/he/departments-and-clinics/genetics/Pages/raphael_recanati_genetic_institute.aspx
Organization ID: 506717
Rabin Medical Center
Jabotinsky St. 39
Petah Tikva
Israel - 49100
https://hospitals.clalit.co.il/rabin/he/departments-and-clinics/genetics/Pages/raphael_recanati_genetic_institute.aspx
Organization ID: 506717
Personnel
- Lily Bazak, Informatics staff
Phone: 972-3-9377659
Email: lilybazak@clalit.org.il
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 18
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ETV2 | 2 | Jun 9, 2021 |
| FOXP2 | 1 | Sep 13, 2018 |
| GABRA2 | 1 | Sep 13, 2018 |
| GIPC3 | 1 | Sep 13, 2018 |
| GJB6 | 1 | Feb 10, 2021 |
| GNB1 | 1 | Sep 13, 2018 |
| HNRNPU | 1 | Sep 13, 2018 |
| ITPR1 | 1 | Sep 13, 2018 |
| LOC126863207 | 1 | Sep 13, 2018 |
| LOC130064247 | 1 | Jun 9, 2021 |
| MECP2 | 1 | Sep 13, 2018 |
| MICOS13 | 1 | Sep 13, 2018 |
| MID1 | 1 | Sep 13, 2018 |
| NFIA | 1 | Sep 13, 2018 |
| OTOA | 1 | Feb 10, 2021 |
| POC5 | 1 | Sep 13, 2018 |
| SLC10A1 | 1 | Sep 13, 2018 |
| SOX9 | 1 | Sep 13, 2018 |
| STRC | 1 | Feb 10, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal vertebral morphology | 2 | Jun 9, 2021 |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 | Sep 13, 2018 |
| Camptomelic dysplasia | 1 | Sep 13, 2018 |
| Childhood apraxia of speech | 1 | Sep 13, 2018 |
| Cholestasis | 1 | Sep 13, 2018 |
| Chromosome 1p32-p31 deletion syndrome | 1 | Sep 13, 2018 |
| Developmental and epileptic encephalopathy, 54 | 1 | Sep 13, 2018 |
| Early infantile epileptic encephalopathy with suppression bursts | 1 | Sep 13, 2018 |
| Gillespie syndrome | 1 | Sep 13, 2018 |
| Hearing impairment | 3 | Feb 10, 2021 |
| Heart, malformation of | 2 | Jun 9, 2021 |
| Hepatic fibrosis | 1 | Sep 13, 2018 |
| Hypoplastic left heart syndrome | 2 | Jun 9, 2021 |
| Intellectual disability, autosomal dominant 42 | 1 | Sep 13, 2018 |
| Mitochondrial hepato-encephalopathy | 1 | Sep 13, 2018 |
| Polydactyly | 2 | Jun 9, 2021 |
| Retinitis pigmentosa | 1 | Sep 13, 2018 |
| Severe neonatal-onset encephalopathy with microcephaly | 1 | Sep 13, 2018 |
| X-linked Opitz G/BBB syndrome | 1 | Sep 13, 2018 |
| high serum bile salts | 1 | Sep 13, 2018 |
| normal GGT | 1 | Sep 13, 2018 |