Laboratory of genome editing
(Research Centre for Medical Genetics)
General information
Laboratory of genome editing
Research Centre for Medical Genetics
Moskvorechie str. 1
Moscow
Russia - 115522
https://med-gen.ru/Organization ID: 508676
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 19
Gene
| Gene | Submissions | Last Updated |
|---|
| ACTL6B | 1 | Aug 23, 2022 |
| ADNP | 1 | Aug 1, 2022 |
| AHDC1 | 1 | Aug 15, 2022 |
| BCAP31 | 1 | Sep 22, 2023 |
| BRD4 | 1 | Aug 15, 2022 |
| FRMPD4 | 1 | Sep 20, 2023 |
| GRIN1 | 1 | Sep 20, 2023 |
| HUWE1 | 1 | Sep 20, 2023 |
| MED13L | 1 | Sep 20, 2023 |
| NEXMIF | 1 | Dec 26, 2023 |
| POGZ | 1 | Dec 26, 2023 |
| RAI1 | 1 | Sep 20, 2023 |
| RBFOX1 | 1 | Sep 20, 2023 |
| SCN2A | 1 | Sep 20, 2023 |
| SMARCA2 | 1 | Sep 20, 2023 |
| SNX14 | 1 | Apr 5, 2023 |
| SOX4 | 1 | Sep 20, 2023 |
| SRCAP | 1 | Sep 20, 2023 |
| TRAPPC6B | 1 | Sep 22, 2023 |
Condition
| Name | Submissions | Last Updated | | ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Aug 1, 2022 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Aug 15, 2022 |
| Autosomal recessive spinocerebellar ataxia 20 | 1 | Apr 5, 2023 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Sep 20, 2023 |
| Coffin-Siris syndrome 10 | 1 | Sep 20, 2023 |
| Developmental and epileptic encephalopathy, 11 | 1 | Sep 20, 2023 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | Sep 20, 2023 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Aug 23, 2022 |
| Intellectual disability | 1 | Sep 20, 2023 |
| Intellectual disability, X-linked 104 | 1 | Sep 20, 2023 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Sep 20, 2023 |
| Intellectual disability, autosomal dominant 8 | 1 | Sep 20, 2023 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Dec 26, 2023 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 1 | Sep 22, 2023 |
| Nicolaides-Baraitser syndrome | 1 | Sep 20, 2023 |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 | Sep 22, 2023 |
| Smith-Magenis syndrome | 1 | Sep 20, 2023 |
| Syndromic intellectual disability | 1 | Aug 15, 2022 |
| X-linked intellectual disability, Cantagrel type | 1 | Dec 26, 2023 |
