Molecular Genetics laboratory (Necker Hospital), MGL
General information
Personnel
- Tania Attie-Bitach, Staff
Phone: 33144495144
Email: tania.attie@aphp.fr - Lucile Boutaud, Staff
Phone: 33144495144
Email: lucile.boutaud@aphp.fr - Stephanie Gobin, Contact
Phone: 33171196205
Email: stephanie.gobin@aphp.fr - Sophie Rondeau, Staff
Phone: 33144494987
Email: sophie.rondeau@aphp.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 233
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACE | 1 | Dec 16, 2021 |
| ACTB | 1 | Aug 31, 2023 |
| ACTL6B | 1 | Aug 31, 2023 |
| ADNP | 1 | Aug 31, 2023 |
| AGO2 | 2 | Aug 31, 2023 |
| AGT | 3 | Dec 16, 2021 |
| AGTR1 | 2 | Dec 16, 2021 |
| ANKRD11 | 2 | Aug 31, 2023 |
| AP2M1 | 1 | Aug 31, 2023 |
| AP3B2 | 1 | Aug 31, 2023 |
| ARID1B | 2 | Aug 31, 2023 |
| ASH1L | 1 | Aug 31, 2023 |
| ASXL2 | 1 | Aug 31, 2023 |
| ASXL3 | 1 | Aug 31, 2023 |
| ATN1 | 1 | Aug 31, 2023 |
| ATP6V0A1 | 1 | Aug 31, 2023 |
| AVPR2 | 1 | Aug 31, 2023 |
| BAG3 | 1 | Aug 31, 2023 |
| BCL11A | 1 | Aug 31, 2023 |
| BCL11B | 1 | Aug 31, 2023 |
| BCOR | 1 | Aug 31, 2023 |
| BICC1 | 1 | Dec 16, 2021 |
| BPTF | 1 | Aug 31, 2023 |
| BRD4 | 1 | Aug 31, 2023 |
| BRSK2 | 1 | Aug 31, 2023 |
| CAMTA1 | 1 | Aug 31, 2023 |
| CASK | 1 | Aug 31, 2023 |
| CHD3 | 1 | Aug 31, 2023 |
| CHD4 | 1 | Aug 31, 2023 |
| CHD8 | 2 | Aug 31, 2023 |
| CLTC | 1 | Aug 31, 2023 |
| CNGA3 | 1 | Aug 31, 2023 |
| CNOT3 | 1 | Aug 31, 2023 |
| CNTN2 | 1 | Aug 31, 2023 |
| CNTNAP2 | 1 | Aug 31, 2023 |
| COL1A1 | 15 | Feb 13, 2023 |
| COL1A2 | 10 | Dec 22, 2022 |
| CPEB1-AS1 | 1 | Aug 31, 2023 |
| CTNNB1 | 1 | Aug 31, 2023 |
| CUL4B | 1 | Aug 31, 2023 |
| CUX2 | 1 | Aug 31, 2023 |
| DDX3X | 2 | Aug 31, 2023 |
| DHX30 | 1 | Aug 31, 2023 |
| DNAJB11 | 1 | Dec 16, 2021 |
| EEF1A2 | 1 | Aug 31, 2023 |
| EFTUD2 | 3 | Aug 31, 2023 |
| EHMT1 | 1 | Aug 31, 2023 |
| EYA1 | 1 | Dec 16, 2021 |
| FANCA | 1 | Aug 31, 2023 |
| FOXP1 | 2 | Aug 31, 2023 |
| FOXP4 | 1 | Aug 31, 2023 |
| FRAS1 | 6 | Dec 16, 2021 |
| GABRB2 | 1 | Aug 31, 2023 |
| GJB2 | 1 | Aug 31, 2023 |
| GNAI1 | 1 | Aug 31, 2023 |
| GREB1L | 3 | Dec 16, 2021 |
| GRIN2B | 2 | Aug 31, 2023 |
| GRIN2D | 1 | Aug 31, 2023 |
| H1-4 | 1 | Aug 31, 2023 |
| HACE1 | 1 | Aug 31, 2023 |
| HDAC8 | 2 | Aug 31, 2023 |
| HIVEP2 | 1 | Aug 31, 2023 |
| HK1 | 1 | Aug 31, 2023 |
| HNRNPH2 | 2 | Aug 31, 2023 |
| KANSL1 | 2 | Aug 31, 2023 |
| KAT6A | 2 | Aug 31, 2023 |
| KCNJ8 | 1 | Aug 31, 2023 |
| KIF22 | 1 | Aug 10, 2023 |
| KMT2A | 1 | Aug 31, 2023 |
| KMT2C | 1 | Aug 31, 2023 |
| KMT2D | 2 | Aug 31, 2023 |
| KMT2E | 2 | Aug 31, 2023 |
| KMT5B | 1 | Aug 31, 2023 |
| KRAS | 1 | Aug 31, 2023 |
| LIG4 | 3 | Jan 16, 2024 |
| LOC101927521 | 1 | Dec 16, 2021 |
| LOC126860802 | 1 | Aug 31, 2023 |
| LOC126862586 | 1 | Dec 15, 2022 |
| LOC130009585 | 1 | Aug 31, 2023 |
| LONP1 | 1 | Aug 31, 2023 |
| MED12 | 2 | Aug 31, 2023 |
| MED13L | 2 | Aug 31, 2023 |
| MPZL2 | 1 | Aug 31, 2023 |
| MYOCD | 1 | Dec 16, 2021 |
| MYT1L | 1 | Aug 31, 2023 |
| NAA15 | 2 | Aug 31, 2023 |
| NALCN | 1 | Aug 31, 2023 |
| NBEA | 1 | Aug 31, 2023 |
| NDUFC1 | 1 | Aug 31, 2023 |
| NPHP3 | 2 | Dec 16, 2021 |
| NPHP3-ACAD11 | 2 | Dec 16, 2021 |
| NSD2 | 2 | Aug 31, 2023 |
| OGT | 1 | Aug 31, 2023 |
| OTC | 24 | May 25, 2020 |
| PAX2 | 1 | Dec 16, 2021 |
| PHIP | 1 | Aug 31, 2023 |
| PKD1 | 2 | Dec 16, 2021 |
| PKD1-AS1 | 1 | Dec 16, 2021 |
| PKD2 | 2 | Dec 16, 2021 |
| PKHD1 | 6 | Dec 16, 2021 |
| POLD1 | 1 | Aug 31, 2023 |
| PPM1D | 1 | Aug 31, 2023 |
| PRR12 | 1 | Aug 31, 2023 |
| PSMC3 | 1 | Aug 31, 2023 |
| PSMD12 | 1 | Aug 31, 2023 |
| PUF60 | 2 | Aug 31, 2023 |
| PURA | 1 | Aug 31, 2023 |
| PYCR2 | 1 | Aug 31, 2023 |
| RAC1 | 1 | Aug 31, 2023 |
| RELT | 1 | Aug 31, 2023 |
| RPL36A-HNRNPH2 | 2 | Aug 31, 2023 |
| SATB2 | 2 | Aug 31, 2023 |
| SCN1A | 1 | Aug 31, 2023 |
| SDHD | 1 | Aug 31, 2023 |
| SELENON | 1 | Aug 31, 2023 |
| SETD1B | 1 | Aug 31, 2023 |
| SETD5 | 3 | Aug 31, 2023 |
| SHANK3 | 1 | Aug 31, 2023 |
| SLC16A2 | 1 | Aug 31, 2023 |
| SLC6A1 | 1 | Aug 31, 2023 |
| SMC1A | 2 | Aug 31, 2023 |
| SNHG14 | 1 | Aug 31, 2023 |
| SON | 2 | Aug 31, 2023 |
| SOX5 | 1 | Aug 31, 2023 |
| SRCAP | 1 | Aug 31, 2023 |
| SYNGAP1 | 2 | Aug 31, 2023 |
| SYNGAP1-AS1 | 2 | Aug 31, 2023 |
| TAB2 | 1 | Aug 31, 2023 |
| TBCK | 1 | Aug 31, 2023 |
| TCF4 | 1 | Aug 31, 2023 |
| THRA | 1 | Aug 31, 2023 |
| TMEM67 | 2 | Dec 16, 2021 |
| TRIP12 | 2 | Aug 31, 2023 |
| TRMT1 | 2 | Aug 31, 2023 |
| TUBB4A | 1 | Aug 31, 2023 |
| UBE3A | 1 | Aug 31, 2023 |
| UFM1 | 1 | Aug 31, 2023 |
| USP7 | 1 | Aug 31, 2023 |
| USP9X | 2 | Aug 31, 2023 |
| WAC | 2 | Aug 31, 2023 |
| WDR83 | 1 | Aug 31, 2023 |
| WDR83OS | 1 | Aug 31, 2023 |
| WNT10A | 1 | Aug 31, 2023 |
| YWHAG | 1 | Aug 31, 2023 |
| ZMIZ1 | 1 | Aug 31, 2023 |
| ZMYND11 | 1 | Aug 31, 2023 |
| ZNF148 | 1 | Aug 31, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Anhydramnios | 24 | Dec 16, 2021 |
| Bilateral renal agenesis | 1 | Dec 16, 2021 |
| Bruck syndrome 1 | 1 | Dec 21, 2022 |
| Enlarged kidney | 11 | Dec 16, 2021 |
| Fraser syndrome 1 | 3 | Dec 16, 2021 |
| Hyperechogenic kidneys | 6 | Dec 16, 2021 |
| Large fontanelles | 2 | Dec 16, 2021 |
| Megabladder, congenital | 1 | Dec 16, 2021 |
| Multiple renal cysts | 14 | Dec 16, 2021 |
| Ornithine carbamoyltransferase deficiency | 24 | May 25, 2020 |
| Osteogenesis imperfecta type I | 14 | Feb 13, 2023 |
| Osteogenesis imperfecta type III | 6 | Dec 22, 2022 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 4 | Dec 22, 2022 |
| Renal agenesis | 7 | Dec 16, 2021 |
| Renal dysplasia, cystic, susceptibility to | 2 | Dec 16, 2021 |
| Renal hypoplasia | 1 | Dec 16, 2021 |
| Renal tubular dysgenesis | 1 | Dec 16, 2021 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Aug 10, 2023 |
| Syndromic X-linked intellectual disability Najm type | 1 | Jan 19, 2024 |
| not provided | 145 | Aug 31, 2023 |
| prenatal LIG4 syndrome with aqueductal stenosis | 3 | Jan 16, 2024 |