Human Developmental Genetics (Institut Pasteur)
Personnel
- Ken McElreavey, Lab Director
Phone: 0033607076820
Email: kenmce@pasteur.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 79
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AR | 5 | Aug 17, 2021 |
| ARID1B | 1 | Sep 16, 2020 |
| CACNA1A | 1 | Aug 17, 2021 |
| CBX2 | 1 | Aug 18, 2021 |
| CC2D2A | 1 | Sep 16, 2020 |
| CCDC141 | 1 | Aug 17, 2021 |
| CDON | 2 | Apr 15, 2021 |
| CHD7 | 1 | Sep 16, 2020 |
| DHH | 1 | Aug 17, 2021 |
| DMXL2 | 1 | Sep 29, 2023 |
| DNMT1 | 1 | Sep 16, 2020 |
| FANCA | 1 | Sep 16, 2020 |
| FANCD2 | 1 | Sep 16, 2020 |
| FANCG | 1 | Sep 16, 2020 |
| FGFR2 | 1 | Aug 17, 2021 |
| FGFR3 | 1 | Sep 16, 2020 |
| FLNA | 1 | Aug 17, 2021 |
| FLRT3 | 1 | Aug 17, 2021 |
| FOXP1 | 1 | Aug 17, 2021 |
| GHRHR | 1 | Aug 17, 2021 |
| GLI2 | 3 | Sep 29, 2023 |
| GLI3 | 1 | Aug 17, 2021 |
| GPRC6A | 1 | Aug 17, 2021 |
| HSD17B3 | 1 | Aug 17, 2021 |
| KDM6A | 1 | Apr 15, 2021 |
| KISS1R | 1 | Sep 16, 2020 |
| LEPR | 1 | Apr 15, 2021 |
| LHX9 | 1 | Apr 5, 2023 |
| LOC107303338 | 1 | Sep 16, 2020 |
| LOC107982234 | 3 | Aug 18, 2021 |
| LOC126807392 | 1 | Aug 17, 2021 |
| LOC126860075 | 1 | Aug 17, 2021 |
| LOC129995965 | 1 | Aug 17, 2021 |
| LOC130003121 | 1 | Sep 16, 2020 |
| MACROD2 | 1 | Aug 17, 2021 |
| MAMLD1 | 1 | Aug 17, 2021 |
| MAP3K1 | 1 | Aug 17, 2021 |
| MYRF | 2 | Aug 17, 2021 |
| NBAS | 1 | Sep 16, 2020 |
| NR2F2 | 1 | Jan 5, 2024 |
| NR5A1 | 5 | Aug 17, 2021 |
| NSMF | 1 | Sep 16, 2020 |
| OFD1 | 2 | Apr 15, 2021 |
| PITX2 | 1 | Sep 29, 2023 |
| PLXNA3 | 1 | Aug 17, 2021 |
| PMM2 | 1 | Sep 16, 2020 |
| PNPLA6 | 1 | Apr 15, 2021 |
| POR | 1 | Aug 17, 2021 |
| PROK2 | 1 | Aug 17, 2021 |
| PROP1 | 1 | Aug 17, 2021 |
| PTCH1 | 1 | Sep 16, 2020 |
| RAF1 | 1 | Sep 16, 2020 |
| ROBO1 | 3 | Sep 16, 2020 |
| RXFP2 | 1 | Aug 17, 2021 |
| SLC35D2-HSD17B3 | 1 | Aug 17, 2021 |
| SLX4 | 1 | Sep 16, 2020 |
| SMARCA2 | 1 | Sep 16, 2020 |
| SOX11 | 1 | Sep 16, 2020 |
| SOX4 | 1 | Aug 17, 2021 |
| SPRY4 | 1 | Aug 17, 2021 |
| TBCE | 2 | Sep 29, 2023 |
| TBX19 | 1 | Sep 16, 2020 |
| TGIF1 | 1 | Aug 17, 2021 |
| VPS13B | 1 | Sep 16, 2020 |
| WT1 | 5 | Aug 18, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 46,XY disorder of sex development | 1 | Jan 5, 2024 |
| 46,XY sex reversal 1 | 2 | Feb 20, 2024 |
| Androgen resistance syndrome | 5 | Aug 17, 2021 |
| Disorder of sexual differentiation | 34 | Aug 18, 2021 |
| Nephrotic syndrome, type 4 | 2 | Sep 16, 2020 |
| Peripheral precocious puberty | 6 | Apr 15, 2021 |
| Pituitary stalk interruption syndrome | 29 | Sep 29, 2023 |