Human Genome and Stem Cell Research Center (Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo), CEGH-CEL
General information
Human Genome and Stem Cell Research Center, CEGH-CEL
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo
São Paulo
Brazil
https://www5.usp.br/
Organization ID: 505725
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo
São Paulo
Brazil
https://www5.usp.br/
Organization ID: 505725
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 96
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALG12 | 1 | Apr 3, 2023 |
| ARHGEF28 | 1 | Apr 3, 2023 |
| BCO2 | 1 | Apr 3, 2023 |
| BRSK2 | 1 | Apr 3, 2023 |
| CA10 | 1 | Apr 3, 2023 |
| CC2D1A | 1 | Apr 3, 2023 |
| CDH4 | 1 | Apr 3, 2023 |
| CDHR2 | 1 | Apr 3, 2023 |
| CHD5 | 1 | Apr 3, 2023 |
| COL3A1 | 1 | Apr 3, 2023 |
| CPOX | 1 | Apr 3, 2023 |
| CRAT | 1 | Apr 3, 2023 |
| DCT | 1 | Apr 3, 2023 |
| DGKB | 1 | Apr 3, 2023 |
| DNA2 | 6 | Sep 22, 2022 |
| DNAH11 | 1 | Apr 3, 2023 |
| DOCK1 | 1 | Apr 3, 2023 |
| DYTN | 1 | Apr 3, 2023 |
| EIF3E | 1 | Apr 3, 2023 |
| EVC | 1 | Apr 3, 2023 |
| FBXL5 | 1 | Apr 3, 2023 |
| FBXO22 | 1 | Apr 3, 2023 |
| FGD1 | 1 | Apr 3, 2023 |
| FIRRM | 1 | Apr 3, 2023 |
| FUZ | 1 | Apr 3, 2023 |
| FYCO1 | 1 | Apr 3, 2023 |
| GFPT2 | 1 | Apr 3, 2023 |
| HDAC9 | 1 | Apr 3, 2023 |
| HNRNPF | 1 | Apr 3, 2023 |
| HSPB1 | 1 | Apr 3, 2023 |
| IFI30 | 1 | Apr 3, 2023 |
| IGF2R | 1 | Apr 3, 2023 |
| INPP5B | 1 | Apr 3, 2023 |
| INSYN1 | 1 | Apr 3, 2023 |
| ISLR2 | 1 | Apr 3, 2023 |
| ITIH2 | 1 | Apr 3, 2023 |
| JAK3 | 1 | Apr 3, 2023 |
| KAT6A | 1 | Apr 3, 2023 |
| KDM1A | 1 | Apr 3, 2023 |
| KMO | 1 | Apr 3, 2023 |
| KRT76 | 1 | Apr 3, 2023 |
| LFNG | 1 | Apr 3, 2023 |
| LINS1 | 1 | Apr 3, 2023 |
| LOC129937121 | 1 | Apr 3, 2023 |
| LOC130009197 | 1 | Apr 3, 2023 |
| LRRC7 | 1 | Apr 3, 2023 |
| LUZP1 | 1 | Apr 3, 2023 |
| MSL2 | 2 | Apr 3, 2023 |
| MTR | 1 | Apr 3, 2023 |
| MUC16 | 1 | Apr 3, 2023 |
| MYO18A | 1 | Apr 3, 2023 |
| NBAS | 1 | Apr 3, 2023 |
| PACS2 | 1 | Apr 3, 2023 |
| PBRM1 | 1 | Apr 3, 2023 |
| PDK1 | 1 | Apr 3, 2023 |
| PLCL1 | 1 | Apr 3, 2023 |
| PNLIPRP3 | 1 | Apr 3, 2023 |
| RFWD3 | 1 | Apr 3, 2023 |
| RGS11 | 1 | Apr 3, 2023 |
| SART3 | 1 | Apr 3, 2023 |
| SLC15A4 | 1 | Apr 3, 2023 |
| SLC16A8 | 1 | Apr 3, 2023 |
| SLC37A2 | 1 | Apr 3, 2023 |
| SPHKAP | 1 | Apr 3, 2023 |
| SURF4 | 1 | Apr 3, 2023 |
| TBCK | 2 | Dec 10, 2021 |
| TBL1X | 1 | Apr 3, 2023 |
| TMEM221 | 1 | Apr 3, 2023 |
| TMEM39B | 1 | Apr 3, 2023 |
| TRPM3 | 1 | Apr 3, 2023 |
| WDFY3 | 1 | Apr 3, 2023 |
| WDR6 | 1 | Apr 3, 2023 |
| ZBED4 | 1 | Apr 3, 2023 |
| ZNF217 | 1 | Apr 3, 2023 |
| ZNF536 | 1 | Apr 3, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autism spectrum disorder | 17 | Dec 6, 2014 |
| Developmental and epileptic encephalopathy, 66 | 1 | Apr 3, 2023 |
| Epilepsy | 8 | Dec 6, 2014 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Dec 10, 2021 |
| Neurodevelopmental delay | 2 | Apr 3, 2023 |
| Rothmund-Thomson syndrome | 6 | Sep 22, 2022 |
| not provided | 68 | Apr 3, 2023 |