Laboratoire de Génétique Moléculaire (CHU Bordeaux), GenMol
General information
Personnel
- Vincent Michaud, Staff
Phone: 0033557820193
Email: vincent.michaud@chu-bordeaux.fr - Perrine Pennamen, Contact
Phone: +33557820958
Email: perrine.pennamen@chu-bordeaux.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 282
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTB | 1 | Aug 31, 2022 |
| ADNP | 2 | Mar 6, 2023 |
| AFG3L2 | 1 | Jan 5, 2021 |
| AGO1 | 2 | Jan 5, 2021 |
| AHDC1 | 1 | Aug 31, 2022 |
| ALDH18A1 | 1 | Aug 1, 2019 |
| ANKRD11 | 1 | Mar 6, 2023 |
| AP1S2 | 2 | Mar 6, 2023 |
| ARHGEF9 | 1 | Jan 5, 2021 |
| ARID1A | 1 | Mar 6, 2023 |
| ARID1B | 2 | Mar 6, 2023 |
| ASNS | 4 | Jan 5, 2021 |
| ASXL1 | 2 | Jan 5, 2021 |
| ASXL3 | 1 | Jan 5, 2021 |
| ATN1 | 1 | Aug 31, 2022 |
| ATP2B1 | 1 | Aug 31, 2022 |
| ATP6AP1 | 1 | Mar 6, 2023 |
| ATP8A2 | 1 | Jan 5, 2021 |
| ATRX | 1 | Jan 5, 2021 |
| BCL11A | 2 | Aug 31, 2022 |
| BCL11B | 1 | Mar 6, 2023 |
| BCOR | 1 | Jan 5, 2021 |
| BICRA | 1 | Aug 31, 2022 |
| BLOC1S3 | 3 | Jun 15, 2020 |
| BLOC1S5 | 2 | May 5, 2020 |
| BLOC1S5-TXNDC5 | 1 | May 5, 2020 |
| BLOC1S6 | 2 | Mar 18, 2020 |
| BRPF1 | 1 | Mar 6, 2023 |
| C12orf57 | 1 | Mar 6, 2023 |
| CACNA1A | 3 | Mar 7, 2023 |
| CAMK2A | 2 | Mar 6, 2023 |
| CDK10 | 1 | Jan 5, 2021 |
| CDK13 | 1 | Mar 6, 2023 |
| CHAMP1 | 1 | Mar 6, 2023 |
| CHD2 | 2 | Mar 6, 2023 |
| CHD4 | 1 | Jan 5, 2021 |
| CHN1 | 2 | Jan 5, 2021 |
| CLCN4 | 1 | Jan 5, 2021 |
| CLTC | 2 | Jan 5, 2021 |
| CNOT1 | 1 | Mar 6, 2023 |
| CNTNAP1 | 2 | Aug 31, 2022 |
| COL4A1 | 1 | Jan 5, 2021 |
| CSNK2A1 | 1 | Aug 31, 2022 |
| CSNK2B | 1 | Jan 5, 2021 |
| CTC1 | 2 | Jan 5, 2021 |
| CTCF | 1 | Mar 6, 2023 |
| CTNNB1 | 2 | Jan 5, 2021 |
| CYP2U1 | 2 | Jan 5, 2021 |
| CZ1P-ASNS | 4 | Jan 5, 2021 |
| DCAF17 | 1 | Aug 31, 2022 |
| DCT | 3 | Jun 29, 2020 |
| DDB1 | 1 | Mar 6, 2023 |
| DDX3X | 1 | Mar 7, 2023 |
| DEAF1 | 1 | Mar 6, 2023 |
| DYNC1H1 | 1 | Mar 6, 2023 |
| DYRK1A | 2 | Aug 31, 2022 |
| EBF3 | 1 | Jan 5, 2021 |
| EEF1A2 | 2 | Mar 6, 2023 |
| EEF1E1-BLOC1S5 | 1 | May 5, 2020 |
| EHMT1 | 1 | Mar 6, 2023 |
| EIF2B5 | 2 | Jan 5, 2021 |
| EPRS1 | 2 | Aug 22, 2022 |
| ERCC8 | 2 | Jan 5, 2021 |
| EZH2 | 1 | Mar 6, 2023 |
| FANCI | 1 | Aug 31, 2022 |
| FOXG1 | 1 | Jan 5, 2021 |
| FOXP1 | 2 | Mar 6, 2023 |
| FOXP2 | 1 | Jan 5, 2021 |
| FYCO1 | 1 | Jan 5, 2021 |
| GABRB3 | 1 | Mar 6, 2023 |
| GALC | 2 | Jan 5, 2021 |
| GJB2 | 2 | Jan 5, 2021 |
| GRHL2 | 1 | Jan 5, 2021 |
| GRIN2A | 1 | Jan 5, 2021 |
| H1-4 | 1 | Jan 5, 2021 |
| H3-3B | 1 | Mar 6, 2023 |
| HDAC8 | 1 | Jan 5, 2021 |
| HGD | 1 | Aug 31, 2022 |
| HIVEP2 | 1 | Aug 31, 2022 |
| HNRNPU | 1 | Jan 5, 2021 |
| HPRT1 | 1 | Jan 5, 2021 |
| HPS5 | 11 | May 2, 2017 |
| IL2RB | 1 | Jun 12, 2018 |
| JAG1 | 1 | Aug 31, 2022 |
| KAT6A | 1 | Jan 5, 2021 |
| KAT6B | 1 | Jan 5, 2021 |
| KCNK4 | 1 | Mar 6, 2023 |
| KCNK4-CATSPERZ | 1 | Mar 6, 2023 |
| KCNQ2 | 1 | Mar 6, 2023 |
| KDM5C | 1 | Mar 6, 2023 |
| KIRREL3 | 1 | Jan 5, 2021 |
| KLF9-DT | 3 | Mar 6, 2023 |
| KMT2A | 3 | Mar 6, 2023 |
| KMT2C | 1 | Mar 6, 2023 |
| KMT2D | 2 | Mar 6, 2023 |
| LINC02166 | 1 | Jan 5, 2021 |
| LOC108281177 | 1 | Jan 5, 2021 |
| LOC125177481 | 1 | Aug 31, 2022 |
| LOC126806658 | 1 | Jan 5, 2021 |
| LOC126863207 | 1 | Mar 7, 2023 |
| LOC126863239 | 1 | Jan 5, 2021 |
| LOC129929837 | 1 | Mar 6, 2023 |
| LOC129992330 | 1 | Jan 5, 2021 |
| MAGEL2 | 1 | Jan 5, 2021 |
| MEA1 | 2 | Mar 7, 2023 |
| MECP2 | 4 | Mar 6, 2023 |
| MED12 | 1 | Aug 31, 2022 |
| MED13L | 1 | Aug 31, 2022 |
| MED23 | 1 | Jan 5, 2021 |
| MEF2C | 2 | Mar 6, 2023 |
| MID1 | 2 | Mar 7, 2023 |
| MIP | 1 | Jan 5, 2021 |
| MYH6 | 1 | Jan 5, 2021 |
| NAA15 | 2 | Mar 6, 2023 |
| NALCN | 3 | Jan 5, 2021 |
| NDST1 | 1 | Aug 31, 2022 |
| NEXMIF | 1 | Jan 5, 2021 |
| NF1 | 1 | Aug 31, 2022 |
| NFIA | 1 | Mar 6, 2023 |
| NGLY1 | 1 | Aug 31, 2022 |
| NPC1 | 1 | Jan 5, 2021 |
| OCA2 | 22 | Sep 2, 2024 |
| PACS1 | 1 | Jan 5, 2021 |
| PAK1 | 1 | Mar 6, 2023 |
| PAK2 | 1 | Oct 18, 2024 |
| PAX3 | 1 | Jan 5, 2021 |
| PAX6 | 1 | Jan 5, 2021 |
| PCCA | 1 | Mar 6, 2023 |
| PEX1 | 2 | Jan 5, 2021 |
| PIGA | 1 | Jan 5, 2021 |
| PIGN | 2 | Aug 31, 2022 |
| PIK3CA | 2 | Aug 31, 2022 |
| PLD1 | 1 | Jan 5, 2021 |
| PPP2R5D | 2 | Mar 7, 2023 |
| PRKAR1B | 1 | Aug 31, 2022 |
| PRR12 | 1 | Mar 6, 2023 |
| PUF60 | 1 | Mar 6, 2023 |
| PURA | 2 | Jan 5, 2021 |
| PUS7 | 2 | Aug 31, 2022 |
| PYCR2 | 2 | Jan 5, 2021 |
| RAC1 | 1 | Aug 31, 2022 |
| REEP1 | 1 | Aug 31, 2022 |
| RLIM | 1 | Jan 5, 2021 |
| RMND1 | 2 | Jan 5, 2021 |
| RNASEH2B | 2 | Jan 5, 2021 |
| SATB2 | 1 | Mar 6, 2023 |
| SCN2A | 2 | Mar 6, 2023 |
| SEPSECS | 2 | Jan 5, 2021 |
| SET | 1 | Jan 5, 2021 |
| SETD1B | 2 | Mar 6, 2023 |
| SETD5 | 3 | Mar 6, 2023 |
| SHANK2 | 2 | Jan 5, 2021 |
| SHANK3 | 2 | Mar 6, 2023 |
| SLC1A2 | 1 | Aug 31, 2022 |
| SMC1A | 1 | Mar 6, 2023 |
| SMC3 | 1 | Mar 6, 2023 |
| SNHG14 | 1 | Mar 6, 2023 |
| SOX2 | 1 | Jan 5, 2021 |
| SOX2-OT | 1 | Jan 5, 2021 |
| SOX5 | 1 | Mar 6, 2023 |
| SPEN | 1 | Aug 31, 2022 |
| SREBF1 | 1 | Aug 31, 2022 |
| STXBP1 | 2 | Mar 6, 2023 |
| STXBP2 | 1 | Aug 31, 2022 |
| SUCLG1 | 1 | Jan 5, 2021 |
| SYNGAP1 | 3 | Mar 6, 2023 |
| SYNGAP1-AS1 | 3 | Mar 6, 2023 |
| TBL1XR1 | 1 | Jan 5, 2021 |
| TCF4 | 1 | Aug 31, 2022 |
| TDP2 | 1 | Mar 6, 2023 |
| TFE3 | 1 | Jan 5, 2021 |
| TLK2 | 1 | Mar 6, 2023 |
| TNRC6B | 1 | Mar 6, 2023 |
| TRAPPC4 | 1 | Jan 5, 2021 |
| TRIO | 1 | Jan 5, 2021 |
| TRPM3 | 3 | Mar 6, 2023 |
| UBE3A | 1 | Mar 6, 2023 |
| USH1C | 1 | Aug 31, 2022 |
| USP7 | 1 | Jan 5, 2021 |
| USP9X | 1 | Aug 31, 2022 |
| VPS13B | 3 | Dec 5, 2023 |
| VPS13D | 2 | Jul 10, 2020 |
| WAC | 1 | Mar 6, 2023 |
| WDR4 | 2 | Jan 5, 2021 |
| WDR45 | 2 | Mar 6, 2023 |
| WDR62 | 1 | Mar 6, 2023 |
| YY1 | 2 | Aug 31, 2022 |
| ZBTB18 | 1 | Mar 6, 2023 |
| ZEB2 | 3 | Mar 6, 2023 |
| ZMYND11 | 2 | Mar 6, 2023 |
| ZNF292 | 2 | Mar 6, 2023 |