Centre for Arab Genomic Studies (Sheikh Hamdan Award for Medical Sciences)
General information
Centre for Arab Genomic Studies
Sheikh Hamdan Award for Medical Sciences
Mankhool Rd.
Dubai
United Arab Emirates - P.O.Box 22252
http://www.cags.org.ae/
Organization ID: 506275
Sheikh Hamdan Award for Medical Sciences
Mankhool Rd.
Dubai
United Arab Emirates - P.O.Box 22252
http://www.cags.org.ae/
Organization ID: 506275
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 14
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| ALG8 congenital disorder of glycosylation | 1 | Aug 1, 2017 |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 | Nov 7, 2019 |
| Developmental and epileptic encephalopathy, 36 | 1 | Aug 1, 2017 |
| Joubert syndrome 22 | 1 | Aug 30, 2018 |
| MPDU1-congenital disorder of glycosylation | 2 | Aug 1, 2017 |
| PMM2-congenital disorder of glycosylation | 2 | Aug 1, 2017 |
| Pontocerebellar hypoplasia, type 1D | 1 | Jan 21, 2019 |
| RFT1-congenital disorder of glycosylation | 1 | Aug 1, 2017 |
| Rafiq syndrome | 1 | Aug 1, 2017 |
| Recessive Marfanoid Syndrome with Severe Herniation | 1 | Nov 7, 2019 |
| SRD5A3-congenital disorder of glycosylation | 1 | Aug 1, 2017 |
| not specified | 1 | Nov 7, 2019 |