Génétique des Maladies du Développement (Hospices Civils de Lyon), HCL
General information
Personnel
- Eudeline Alix, Staff
Phone: +33472129697
Email: eudeline.alix@chu-lyon.fr - Nicolas Chatron, Contact
Phone: +33472129697
Email: nicolas.chatron@chu-lyon.fr - Audrey Labalme, Staff
Phone: +33472129697
Email: audrey.labalme@chu-lyon.fr - Gaetan Lesca, Principal Investigator
Phone: +33472129697
Email: gaetan.lesca@chu-lyon.fr - Jessica Michel, Staff
Phone: +33472129697
Email: jessica.michel02@chu-lyon.fr - Damien Sanlaville, Lab Director
Phone: +33472129697
Email: damien.sanlaville@chu-lyon.fr - Caroline Schluth-Bolard, Lab Associate Director
Phone: +33472129697
Email: caroline.schluth-bolard@chu-lyon.fr - Marianne Till, Lab Associate Director
Phone: +33472129697
Email: marianne.till@chu-lyon.fr
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
Summary of submissions to ClinVar
Total submissions: 441
Gene
Gene | Submissions | Last Updated |
---|---|---|
ACTB | 2 | Jun 15, 2020 |
ADARB1 | 1 | Sep 1, 2020 |
ADNP | 3 | Oct 17, 2018 |
AIFM1 | 1 | Feb 25, 2020 |
ALDH4A1 | 1 | May 24, 2019 |
ALDH7A1 | 1 | May 13, 2020 |
ALG13 | 2 | Oct 29, 2020 |
ANKRD11 | 2 | Jul 20, 2020 |
ARHGEF9 | 3 | May 24, 2019 |
ARID1B | 4 | Mar 9, 2020 |
ARMCX5-GPRASP2 | 2 | Oct 17, 2018 |
ASXL3 | 1 | Oct 17, 2018 |
ATP1A2 | 2 | Jul 26, 2018 |
ATP1A3 | 7 | Oct 7, 2020 |
ATP8A2 | 1 | Mar 25, 2020 |
BCL11A | 1 | Mar 9, 2020 |
BCL11B | 1 | Dec 16, 2020 |
BRPF1 | 1 | Oct 17, 2018 |
C1orf105 | 2 | Jun 3, 2020 |
CACNA1A | 2 | May 24, 2019 |
CAMK2A | 1 | Mar 9, 2020 |
CASK | 2 | May 24, 2019 |
CDK13 | 2 | Mar 9, 2020 |
CDKL5 | 11 | Jan 5, 2021 |
CHD2 | 8 | Aug 7, 2020 |
CHD4 | 1 | Oct 17, 2018 |
CHD7 | 1 | Oct 17, 2018 |
CHRNA2 | 1 | May 24, 2019 |
CLCN4 | 1 | Dec 16, 2020 |
CNKSR2 | 2 | Oct 17, 2018 |
COL3A1 | 1 | Jul 21, 2020 |
CREBBP | 1 | Oct 17, 2018 |
CSTB | 1 | Sep 1, 2020 |
CUX2 | 1 | Oct 17, 2018 |
CYFIP2 | 2 | May 14, 2020 |
DCX | 1 | Oct 17, 2018 |
DDX3X | 1 | Mar 9, 2020 |
DEPDC5 | 6 | Oct 2, 2020 |
DMD | 1 | Oct 17, 2018 |
DNMT3A | 2 | Oct 17, 2018 |
DSP | 1 | Mar 9, 2020 |
DYRK1A | 3 | Jul 20, 2020 |
EEF1A2 | 2 | May 24, 2019 |
EFTUD2 | 1 | Mar 9, 2020 |
EHMT1 | 4 | Oct 17, 2018 |
EMC1 | 2 | Oct 7, 2019 |
EMC1-AS1 | 2 | Oct 7, 2019 |
FARS2 | 1 | May 24, 2019 |
FBXO11 | 2 | Jun 12, 2020 |
FGF12 | 1 | May 24, 2019 |
FLNA | 1 | Oct 17, 2018 |
FOXG1 | 2 | Jun 11, 2020 |
FOXP1 | 2 | Oct 17, 2018 |
FOXP2 | 1 | Oct 17, 2018 |
GABBR2 | 1 | Sep 24, 2020 |
GABRA1 | 3 | Apr 22, 2020 |
GABRB3 | 2 | May 24, 2019 |
GABRG2 | 1 | Feb 28, 2020 |
GATAD2B | 2 | Oct 30, 2020 |
GH-LCR | 1 | Feb 25, 2020 |
GNAO1 | 4 | Mar 16, 2020 |
GNB1 | 1 | Mar 9, 2020 |
GNB5 | 1 | Mar 9, 2020 |
GPRASP1 | 2 | Oct 17, 2018 |
GRIA3 | 1 | Mar 9, 2020 |
GRIN1 | 3 | Jun 10, 2020 |
GRIN2A | 16 | Jun 10, 2020 |
GRIN2B | 6 | Sep 30, 2020 |
GRIN2D | 1 | May 24, 2019 |
GRM1 | 2 | Mar 9, 2020 |
GRM6 | 1 | Oct 5, 2020 |
GRM7 | 1 | Apr 22, 2020 |
HDAC8 | 2 | Oct 22, 2020 |
HEXA | 1 | Mar 9, 2020 |
HIVEP2 | 1 | Oct 17, 2018 |
HNRNPU | 2 | Jun 26, 2020 |
HUWE1 | 1 | Mar 9, 2020 |
IL1RAPL1 | 2 | Oct 17, 2018 |
IQSEC2 | 3 | Oct 17, 2018 |
KANSL1 | 3 | Mar 9, 2020 |
KAT6A | 1 | Oct 17, 2018 |
KAT6B | 1 | Oct 17, 2018 |
KCNA2 | 1 | May 24, 2019 |
KCNB1 | 2 | Oct 17, 2018 |
KCNC1 | 1 | May 24, 2019 |
KCND3 | 1 | Feb 28, 2020 |
KCNMA1 | 1 | Oct 7, 2020 |
KCNQ2 | 21 | Aug 7, 2020 |
KCNQ3 | 1 | May 24, 2019 |
KCNQ5 | 1 | Mar 9, 2020 |
KCNT1 | 11 | Sep 29, 2020 |
KDM5C | 3 | Oct 17, 2018 |
KDM6A | 2 | Dec 16, 2020 |
KLHL20 | 1 | Mar 30, 2020 |
KMT2A | 1 | Oct 17, 2018 |
KMT2B | 1 | Mar 9, 2020 |
KMT2D | 5 | Oct 17, 2018 |
LOC100130798 | 1 | Oct 5, 2020 |
LOC102724058 | 9 | Oct 29, 2020 |
LOC107988032 | 1 | Oct 17, 2018 |
LRIG2 | 1 | Mar 9, 2020 |
MBD5 | 1 | May 24, 2019 |
MEA1 | 2 | Mar 9, 2020 |
MECP2 | 7 | Jun 5, 2020 |
MED12 | 3 | Oct 17, 2018 |
MED13L | 3 | Mar 9, 2020 |
MEF2C | 1 | Oct 17, 2018 |
MID1 | 1 | Oct 30, 2020 |
MORC2 | 1 | Mar 9, 2020 |
MTO1 | 1 | Mar 9, 2020 |
NCKAP1 | 2 | Mar 25, 2020 |
NEDD4L | 1 | May 24, 2019 |
NEXMIF | 2 | Jun 12, 2020 |
NFIX | 1 | Oct 17, 2018 |
NHLRC1 | 1 | May 24, 2019 |
NR2F1 | 2 | Mar 4, 2020 |
NSD1 | 2 | Oct 17, 2018 |
PACS1 | 2 | Mar 9, 2020 |
PC | 1 | Mar 9, 2020 |
PCDH19 | 9 | Oct 19, 2020 |
PCGF2 | 1 | Mar 9, 2020 |
PDHA1 | 1 | Oct 17, 2018 |
PHF21A | 1 | Oct 17, 2018 |
PHIP | 1 | Oct 5, 2020 |
PIGA | 1 | May 24, 2019 |
PIGC | 2 | Jun 3, 2020 |
PITX1 | 2 | Jun 20, 2020 |
PLAA | 1 | Mar 19, 2020 |
PNPO | 1 | May 24, 2019 |
POGZ | 2 | Oct 17, 2018 |
PORCN | 1 | Mar 9, 2020 |
PPP2R5D | 2 | Mar 9, 2020 |
PPP3CA | 1 | Feb 25, 2020 |
PQBP1 | 1 | Oct 17, 2018 |
PRRT2 | 7 | Sep 14, 2020 |
PTCHD1 | 1 | Oct 17, 2018 |
RAB33A | 1 | Feb 25, 2020 |
RAB3GAP2 | 1 | Oct 5, 2020 |
RAC1 | 1 | Mar 9, 2020 |
RAPSN | 1 | Mar 9, 2020 |
RORB | 1 | Oct 19, 2020 |
RPS6KA3 | 2 | Oct 17, 2018 |
RS1 | 1 | Oct 17, 2018 |
SATB2 | 2 | Oct 17, 2018 |
SCN1A | 23 | Dec 16, 2020 |
SCN1B | 3 | May 24, 2019 |
SCN2A | 18 | Oct 29, 2020 |
SCN4A | 1 | Feb 25, 2020 |
SCN8A | 6 | Jan 5, 2021 |
SEMA5A | 1 | Oct 17, 2018 |
SETBP1 | 1 | Oct 17, 2018 |
SETD1B | 1 | Nov 2, 2020 |
SETD5 | 3 | Oct 17, 2018 |
SHANK2 | 1 | Oct 17, 2018 |
SHANK3 | 3 | Jan 5, 2021 |
SIK1 | 1 | Jan 27, 2020 |
SLC1A1 | 1 | Oct 17, 2018 |
SLC2A1 | 4 | Apr 22, 2020 |
SLC35A2 | 1 | May 24, 2019 |
SLC6A1 | 5 | Oct 20, 2020 |
SLC7A6OS | 1 | Jul 20, 2020 |
SLC9A6 | 1 | May 24, 2019 |
SLITRK6 | 1 | Mar 9, 2020 |
SMARCA4 | 2 | Oct 17, 2018 |
SMC1A | 1 | Oct 17, 2018 |
SMC3 | 1 | Oct 17, 2018 |
SMS | 1 | Oct 17, 2018 |
SNHG14 | 3 | May 24, 2019 |
SON | 2 | Dec 6, 2020 |
SOX11 | 1 | Oct 17, 2018 |
SOX5 | 1 | Oct 17, 2018 |
SOX6 | 1 | Jul 20, 2020 |
SPATA6L | 1 | Oct 17, 2018 |
SPTAN1 | 2 | Dec 6, 2020 |
STAG1 | 1 | Mar 9, 2020 |
STAMBP | 1 | May 24, 2019 |
STX1B | 1 | May 24, 2019 |
STXBP1 | 6 | Feb 13, 2020 |
SYN1 | 1 | Jul 8, 2020 |
SYNGAP1 | 15 | Dec 3, 2020 |
TCF20 | 2 | Nov 19, 2018 |
TCF4 | 2 | Mar 9, 2020 |
TRIO | 2 | Oct 17, 2018 |
TRIP12 | 2 | Oct 17, 2018 |
TRPM3 | 1 | Sep 30, 2020 |
TRRAP | 1 | Mar 9, 2020 |
TUBA1A | 2 | Oct 17, 2018 |
UBE3A | 3 | May 24, 2019 |
UPF1 | 1 | Jun 30, 2020 |
USH2A | 1 | Oct 5, 2020 |
USP9X | 1 | Oct 17, 2018 |
WAC | 1 | Jun 15, 2020 |
WDR45 | 5 | Mar 9, 2020 |
WWOX | 1 | May 24, 2019 |
ZBTB18 | 1 | Jul 20, 2020 |
ZDHHC9 | 1 | Oct 17, 2018 |
ZMYND11 | 1 | Mar 9, 2020 |