Department of Medical Genetics
(National Institute of Health), DGM - INH
General information
Department of Medical Genetics, DGM - INH
National Institute of Health
27, Avenue Ibn Batouta
Rabat
Rabat-Sale
Morocco - 11400
Organization ID: 505877
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 35
Gene
| Gene | Submissions | Last Updated |
|---|
| ANKRD11 | 3 | Jul 27, 2023 |
| ARG1 | 1 | May 19, 2022 |
| BRCA1 | 1 | Jul 27, 2018 |
| CLDN16 | 1 | Oct 21, 2019 |
| CNNM4 | 1 | Aug 4, 2016 |
| COL4A3 | 1 | Jun 14, 2022 |
| COLQ | 1 | Oct 9, 2021 |
| EMD | 1 | Aug 19, 2022 |
| FKRP | 1 | Aug 10, 2022 |
| GALC | 1 | Jul 27, 2023 |
| KMT2D | 1 | Jun 13, 2022 |
| LAMA2 | 3 | Jun 7, 2022 |
| LMNA | 2 | Jul 14, 2022 |
| LOC126807619 | 1 | Jul 28, 2023 |
| MED12 | 1 | Mar 27, 2024 |
| MED23 | 1 | May 19, 2022 |
| METTL23 | 1 | Feb 13, 2020 |
| MFF-DT | 1 | Jun 14, 2022 |
| NIPBL | 1 | Jun 26, 2023 |
| NSD1 | 4 | Jul 28, 2023 |
| SATB2 | 1 | Mar 27, 2024 |
| SCN1A | 1 | Jul 4, 2023 |
| SGCA | 2 | Jun 14, 2022 |
| SGCB | 1 | Jun 14, 2022 |
| SMC1A | 2 | Mar 27, 2024 |
| SPTB | 1 | Jun 7, 2022 |
| TGFBI | 1 | Nov 10, 2020 |
| TTN | 1 | Apr 15, 2021 |
| TTN-AS1 | 1 | Apr 15, 2021 |
Condition
| Name | Submissions | Last Updated | | Arginase deficiency | 1 | May 19, 2022 |
| Atypical Rett syndrome | 1 | Mar 27, 2024 |
| Autosomal dominant Alport syndrome | 1 | Jun 14, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 | Jun 14, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | Jun 14, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Aug 10, 2022 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Mar 27, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Jul 27, 2018 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Mar 27, 2024 |
| Congenital muscular dystrophy due to LMNA mutation | 1 | Jul 14, 2022 |
| Congenital myasthenic syndrome 5 | 1 | Oct 9, 2021 |
| Cornelia de Lange syndrome 1 | 1 | Jun 26, 2023 |
| De Lange syndrome | 1 | Mar 27, 2024 |
| Early-onset myopathy with fatal cardiomyopathy | 1 | Apr 15, 2021 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Jun 13, 2022 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Jul 27, 2023 |
| Hereditary spherocytosis type 2 | 1 | Jun 7, 2022 |
| Intellectual disability, autosomal recessive 44 | 1 | Feb 13, 2020 |
| Jalili syndrome | 1 | Aug 4, 2016 |
| KBG syndrome | 3 | Jul 27, 2023 |
| Kabuki syndrome 1 | 1 | Jun 13, 2022 |
| Merosin deficient congenital muscular dystrophy | 3 | Jun 7, 2022 |
| Primary hypomagnesemia | 1 | Oct 21, 2019 |
| Severe myoclonic epilepsy in infancy | 1 | Jul 4, 2023 |
| Sotos syndrome | 4 | Jul 28, 2023 |
| Thiel-Behnke corneal dystrophy | 1 | Nov 10, 2020 |
| X-linked Emery-Dreifuss muscular dystrophy | 1 | Aug 19, 2022 |
