Laboratory of Functional Genomics
(Research Centre for Medical Genetics)
General information
Laboratory of Functional Genomics
Research Centre for Medical Genetics
Moscow
Russia
Organization ID: 506566
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 39
Gene
| Gene | Submissions | Last Updated |
|---|
| ARSL | 1 | Dec 25, 2023 |
| ASCC1 | 2 | Aug 24, 2021 |
| CHD2 | 1 | Sep 6, 2022 |
| COL2A1 | 10 | Mar 29, 2023 |
| DDX3X | 1 | Oct 20, 2022 |
| DEPDC5 | 4 | Jun 13, 2023 |
| DMD | 1 | Jul 6, 2023 |
| EIF2S3 | 1 | May 11, 2021 |
| GDAP1 | 1 | Aug 12, 2021 |
| HNRNPU | 1 | Mar 10, 2022 |
| LOC108167315 | 1 | Sep 21, 2022 |
| LOC130057985 | 1 | Sep 6, 2022 |
| MICU1 | 1 | Aug 2, 2022 |
| MPZ | 1 | Feb 13, 2023 |
| NIPBL | 1 | Feb 12, 2024 |
| PALB2 | 1 | Aug 25, 2021 |
| POMC | 1 | Sep 21, 2022 |
| PPOX | 1 | Sep 6, 2022 |
| QDPR | 1 | Jun 13, 2023 |
| SCN9A | 1 | Aug 26, 2022 |
| SH3TC2 | 1 | Feb 13, 2023 |
| SHANK3 | 1 | Feb 15, 2023 |
| SLC34A1 | 1 | Aug 10, 2021 |
| SLC34A3 | 1 | Aug 16, 2021 |
| SLC37A4 | 1 | Sep 30, 2022 |
| TTN | 1 | Oct 7, 2022 |
| TTN-AS1 | 1 | Oct 7, 2022 |
| TWIST1 | 1 | Feb 12, 2024 |
| ZNF335 | 1 | Feb 13, 2023 |
Condition
| Name | Submissions | Last Updated | | Achondrogenesis type II | 3 | Mar 29, 2023 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Aug 16, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | Oct 7, 2022 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Aug 26, 2022 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Aug 12, 2021 |
| Charcot-Marie-Tooth disease type 1B | 2 | Feb 13, 2023 |
| Developmental and epileptic encephalopathy, 54 | 2 | Feb 12, 2024 |
| Dihydropteridine reductase deficiency | 1 | Jun 13, 2023 |
| Duchenne muscular dystrophy | 1 | Jul 6, 2023 |
| Early infantile epileptic encephalopathy with suppression bursts | 1 | Sep 6, 2022 |
| Epilepsy, familial focal, with variable foci 1 | 4 | Jun 13, 2023 |
| Fanconi anemia complementation group N | 1 | Aug 25, 2021 |
| Glucose-6-phosphate transport defect | 1 | Sep 30, 2022 |
| Hypercalcemia, infantile, 2 | 1 | Aug 10, 2021 |
| Intellectual disability, X-linked 102 | 1 | Oct 20, 2022 |
| MEHMO syndrome | 1 | May 11, 2021 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 | Feb 13, 2023 |
| Obesity due to pro-opiomelanocortin deficiency | 1 | Sep 21, 2022 |
| Phelan-McDermid syndrome | 1 | Feb 15, 2023 |
| Proximal myopathy with extrapyramidal signs | 1 | Aug 2, 2022 |
| Robinow-Sorauf syndrome | 1 | Feb 12, 2024 |
| Saethre-Chotzen syndrome | 1 | Feb 12, 2024 |
| Spinal muscular atrophy with congenital bone fractures 2 | 2 | Aug 24, 2021 |
| Spondyloepiphyseal dysplasia congenita | 1 | Mar 9, 2023 |
| Stickler syndrome type 1 | 6 | Mar 29, 2023 |
| TWIST1-related craniosynostosis | 1 | Feb 12, 2024 |
| Variegate porphyria | 1 | Sep 6, 2022 |
| X-linked chondrodysplasia punctata 1 | 1 | Dec 25, 2023 |
