Hereditary Research Laboratory
(Bethlehem University), BU
General information
Hereditary Research Laboratory, BU
Bethlehem University
Frere street
Bethlehem
Palestinian Territory - 9
Organization ID: 505778
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 58
Gene
| Gene | Submissions | Last Updated |
|---|
| ADGRV1 | 2 | Jul 28, 2016 |
| CACNA1D | 1 | Jul 28, 2016 |
| CDH23 | 7 | Jul 28, 2016 |
| CLCN7 | 1 | Apr 24, 2021 |
| ESRRB | 2 | Jul 28, 2016 |
| GPSM2 | 2 | Jul 28, 2016 |
| JAG1 | 1 | Apr 24, 2021 |
| LHFPL5 | 1 | Jul 28, 2016 |
| LOC105371566 | 3 | Jul 28, 2016 |
| LOXHD1 | 1 | Jul 28, 2016 |
| MYH9 | 1 | Jul 28, 2016 |
| MYO15A | 4 | Jul 28, 2016 |
| MYO6 | 1 | Jul 28, 2016 |
| MYO7A | 6 | Jul 28, 2016 |
| NPC1 | 2 | Jun 2, 2021 |
| OTOA | 1 | Jul 28, 2016 |
| OTOF | 2 | Jul 28, 2016 |
| PAX3 | 1 | Jul 28, 2016 |
| PCDH15 | 1 | Jul 28, 2016 |
| POU3F4 | 1 | Jul 28, 2016 |
| PTRH2 | 1 | Jul 28, 2016 |
| SLC26A4 | 7 | Jul 28, 2016 |
| SNX10 | 1 | Apr 24, 2021 |
| TBCEL-TECTA | 1 | Jul 28, 2016 |
| TCIRG1 | 2 | Apr 24, 2021 |
| TECTA | 1 | Jul 28, 2016 |
| TMC1 | 2 | Jul 28, 2016 |
| TMPRSS3 | 1 | Jul 28, 2016 |
| TRIOBP | 3 | Jul 28, 2016 |
| USH1G | 1 | Jul 28, 2016 |
Condition
| Name | Submissions | Last Updated | | Alagille syndrome due to a JAG1 point mutation | 1 | Apr 24, 2021 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 12 | 7 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 2 | 6 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 28 | 3 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 3 | 4 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 35 | 2 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 7 | 2 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 77 | 1 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Jul 28, 2016 |
| Autosomal recessive nonsyndromic hearing loss 9 | 2 | Jul 28, 2016 |
| Autosomal recessive osteopetrosis 1 | 2 | Apr 24, 2021 |
| Autosomal recessive osteopetrosis 4 | 1 | Apr 24, 2021 |
| Autosomal recessive osteopetrosis 7 | 1 | Apr 24, 2021 |
| Autosomal recessive osteopetrosis 8 | 1 | Apr 24, 2021 |
| Hearing loss, autosomal recessive | 3 | Jul 28, 2016 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 1 | Jul 28, 2016 |
| Niemann-Pick disease, type C1 | 2 | Jun 2, 2021 |
| Pendred syndrome | 7 | Jul 28, 2016 |
| Sinoatrial node dysfunction and deafness | 1 | Jul 28, 2016 |
| Usher syndrome type 1G | 1 | Jul 28, 2016 |
| Usher syndrome type 2C | 2 | Jul 28, 2016 |
| Waardenburg syndrome type 1 | 1 | Jul 28, 2016 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | Jul 28, 2016 |
