Department of Biochemistry, Faculty of Medicine
(University of Khartoum), Bio-Med-UofK
General information
Department of Biochemistry, Faculty of Medicine, Bio-Med-UofK
University of Khartoum
Alqsr street
Khartoum
Sudan
Organization ID: 507301
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 31
Gene
| Gene | Submissions | Last Updated |
|---|
| ABHD16A | 2 | Jun 3, 2021 |
| ADAT3 | 1 | Mar 25, 2021 |
| AP5Z1 | 1 | Sep 17, 2022 |
| ARG1 | 1 | Jun 5, 2020 |
| ATP2B3 | 1 | Mar 25, 2021 |
| CCDC82 | 1 | Mar 25, 2021 |
| CCDC88C | 1 | Dec 22, 2020 |
| DARS2 | 1 | Nov 22, 2019 |
| DDHD2 | 1 | Sep 17, 2022 |
| DMXL2 | 1 | Sep 17, 2022 |
| ERCC6 | 1 | Sep 17, 2022 |
| ERCC8 | 2 | Sep 17, 2022 |
| FA2H | 1 | Sep 17, 2022 |
| HERC2 | 1 | Mar 3, 2021 |
| HUWE1 | 1 | Mar 25, 2021 |
| MCOLN1 | 1 | Sep 17, 2022 |
| MED23 | 1 | Jun 5, 2020 |
| MFSD8 | 1 | Sep 17, 2022 |
| NF1 | 1 | Sep 17, 2022 |
| NT5C2 | 2 | Sep 17, 2022 |
| POLR3A | 1 | Sep 17, 2022 |
| PRUNE1 | 1 | Jun 6, 2020 |
| PTPRQ | 1 | Sep 17, 2022 |
| SACS | 1 | Sep 17, 2022 |
| SCAMP4 | 1 | Mar 25, 2021 |
| SIL1 | 1 | Sep 17, 2022 |
| SPG11 | 2 | Sep 17, 2022 |
| VLDLR | 1 | Sep 17, 2022 |
| ZFYVE26 | 1 | Sep 17, 2022 |
Condition
| Name | Submissions | Last Updated | | Arginase deficiency | 1 | Jun 5, 2020 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 1 | Sep 17, 2022 |
| Charlevoix-Saguenay spastic ataxia | 1 | Sep 17, 2022 |
| Cockayne syndrome type 1 | 2 | Sep 17, 2022 |
| Cockayne syndrome type 2 | 1 | Sep 17, 2022 |
| Complex hereditary spastic paraplegia | 2 | Jun 3, 2021 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | Mar 3, 2021 |
| Hearing loss, autosomal dominant 73 | 1 | Sep 17, 2022 |
| Hereditary spastic paraplegia 11 | 2 | Sep 17, 2022 |
| Hereditary spastic paraplegia 15 | 1 | Sep 17, 2022 |
| Hereditary spastic paraplegia 35 | 1 | Sep 17, 2022 |
| Hereditary spastic paraplegia 45 | 2 | Sep 17, 2022 |
| Hereditary spastic paraplegia 48 | 1 | Sep 17, 2022 |
| Hereditary spastic paraplegia 54 | 1 | Sep 17, 2022 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Mar 25, 2021 |
| Intellectual disability-strabismus syndrome | 1 | Mar 25, 2021 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Nov 22, 2019 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 1 | Sep 17, 2022 |
| Marinesco-Sjögren syndrome | 1 | Sep 17, 2022 |
| Mucolipidosis type IV | 1 | Sep 17, 2022 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Jun 6, 2020 |
| Neurofibromatosis, type 1 | 1 | Sep 17, 2022 |
| Neuronal ceroid lipofuscinosis 7 | 1 | Sep 17, 2022 |
| Spasticity | 1 | Sep 17, 2022 |
| Spinocerebellar ataxia type 40 | 1 | Dec 22, 2020 |
| Syndromic intellectual disability | 1 | Mar 25, 2021 |
| X-linked progressive cerebellar ataxia | 1 | Mar 25, 2021 |
