Uitto Lab (Thomas Jefferson University)
General information
Uitto Lab
Thomas Jefferson University
233 S 10th street
Philadelphia
Pennsylvania
United States - 19107
https://www.jefferson.edu
Organization ID: 506706
Thomas Jefferson University
233 S 10th street
Philadelphia
Pennsylvania
United States - 19107
https://www.jefferson.edu
Organization ID: 506706
Personnel
- Amir Hossein Saeidian, Genetic Counselor
Phone: 2672394630
Email: [email protected] - Jouni Uitto, Principal Investigator
Phone: 2155035785
Email: [email protected] - Hassan Vahidnezhad, Genetic Counselor
Phone: 2154299783
Email: [email protected] - Leila Youssefian, Genetic Counselor
Phone: 6109999402
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 53
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive congenital ichthyosis 1 | 13 | Oct 2, 2018 |
| Autosomal recessive congenital ichthyosis 10 | 6 | Oct 2, 2018 |
| Autosomal recessive congenital ichthyosis 2 | 14 | Oct 2, 2018 |
| Autosomal recessive congenital ichthyosis 4B | 7 | Oct 2, 2018 |
| Autosomal recessive congenital ichthyosis 5 | 4 | Oct 2, 2018 |
| Autosomal recessive congenital ichthyosis 6 | 2 | Oct 2, 2018 |
| Autosomal recessive congenital ichthyosis 9 | 1 | Oct 2, 2018 |
| Congenital ichthyosis of skin | 3 | Oct 2, 2018 |
| IFAP syndrome 1, with or without BRESHECK syndrome | 1 | Nov 8, 2018 |
| Ichthyosis, congenital, autosomal recessive 14 | 2 | Oct 2, 2018 |