The Morris Kahn Laboratory of Human Genetics (Ben-Gurion University of the Negev), MKLHG-NIBN
General information
Personnel
- Ohad Wormser, Staff
Phone: +972-54-9980101
Email: ohad.wormser@gmail.com - Yuval Yogev, Staff
Phone: +972547375372
Email: yogevyu@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 10
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Abnormality of speech or vocalization | 1 | Jul 2, 2018 |
Atypical hemolytic-uremic syndrome | 1 | Jun 24, 2023 |
Brachydactyly | 1 | Jul 2, 2018 |
Congenital myopathy with fiber type disproportion | 1 | Mar 29, 2022 |
Ehlers-Danlos syndrome | 1 | Mar 11, 2024 |
Hereditary spastic paraplegia | 1 | Mar 24, 2017 |
Intellectual disability | 2 | Jun 27, 2019 |
Isolated anophthalmia-microphthalmia syndrome | 1 | Dec 30, 2022 |
Kaposi sarcoma | 1 | Feb 15, 2024 |
Leukodystrophy | 1 | Apr 16, 2019 |
Limb-girdle muscular dystrophy | 1 | Dec 13, 2022 |
Obesity | 1 | Jul 2, 2018 |
Pigmentary retinopathy | 1 | Jul 2, 2018 |
Seizure | 1 | Jun 27, 2019 |
Short stature | 1 | Jul 2, 2018 |