Department Of Genetics (Lifeline Super Speciality Hospital, Adoor.), LLH
General information
Department Of Genetics, LLH
Lifeline Super Speciality Hospital, Adoor.
Meloodu PO,
ADOOR
Kerala
India - 691523
http://www.rgcs.in
Organization ID: 506377
Lifeline Super Speciality Hospital, Adoor.
Meloodu PO,
ADOOR
Kerala
India - 691523
http://www.rgcs.in
Organization ID: 506377
Personnel
- Sreelata Nair, Principal Investigator
Phone: 91-9847237233
Email: sreelata.nair@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alagille syndrome due to a JAG1 point mutation | 2 | Sep 11, 2021 |
| Cornelia de Lange syndrome 1 | 1 | Aug 10, 2021 |
| Craniofrontonasal syndrome | 1 | Jan 19, 2023 |
| Developmental and epileptic encephalopathy, 28 | 1 | Dec 24, 2021 |
| Dyggve-Melchior-Clausen syndrome | 1 | Dec 16, 2023 |
| Hurler syndrome | 1 | Apr 3, 2024 |
| Kabuki syndrome 1 | 1 | Sep 15, 2021 |
| Neuronal ceroid lipofuscinosis 2 | 1 | Sep 30, 2021 |
| Neuropathy, hereditary motor and sensory, type 6A | 1 | Mar 26, 2024 |
| Pitt-Hopkins syndrome | 1 | Dec 22, 2022 |
| Potassium-aggravated myotonia | 1 | Sep 30, 2021 |