Genetics Laboratory, UDIAT-Centre Diagnòstic (Hospital Universitari Parc Tauli), LdG
General information
Personnel
- Anna Ruiz, Staff
Phone: 0034 936933200
Email: aruizn@tauli.cat - Nino Spataro, Staff
Phone: 0034 936933200
Email: spatariello@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 355
Gene
Gene | Submissions | Last Updated |
---|---|---|
ACTB | 2 | Apr 15, 2025 |
ACTR2 | 1 | Apr 15, 2025 |
ADGRL1 | 1 | Apr 15, 2025 |
ADGRL1-AS1 | 1 | Apr 15, 2025 |
ADNP | 4 | Oct 4, 2022 |
ADSL | 2 | Apr 15, 2025 |
AFF2 | 1 | Apr 15, 2025 |
AGO1 | 1 | May 6, 2021 |
AHDC1 | 2 | May 6, 2021 |
ANK2 | 1 | Apr 15, 2025 |
ANKRD11 | 15 | Apr 15, 2025 |
AP1G1 | 2 | Oct 4, 2022 |
ARFGEF1 | 1 | Apr 15, 2025 |
ARID1A | 1 | Apr 15, 2025 |
ARID1B | 5 | Apr 15, 2025 |
ARID2 | 1 | Oct 4, 2022 |
ASCC1 | 1 | May 6, 2021 |
ASXL3 | 1 | Oct 4, 2022 |
ATXN7L3-AS1 | 1 | May 6, 2021 |
AUTS2 | 3 | Oct 4, 2022 |
BCL11A | 1 | Apr 15, 2025 |
BCL11B | 1 | Apr 15, 2025 |
BMP4 | 1 | May 6, 2021 |
BPTF | 2 | Apr 15, 2025 |
BRD4 | 1 | Oct 4, 2022 |
BRF1 | 2 | May 6, 2021 |
BRPF1 | 1 | May 6, 2021 |
CACNA1C | 1 | Apr 15, 2025 |
CACNA1D | 1 | May 6, 2021 |
CAMTA1 | 1 | Oct 4, 2022 |
CAPN3 | 2 | May 6, 2021 |
CCDC82 | 1 | Oct 4, 2022 |
CDC42 | 1 | May 6, 2021 |
CDK13 | 3 | Apr 15, 2025 |
CDKL5 | 1 | Apr 15, 2025 |
CELF2 | 1 | Oct 4, 2022 |
CFAP410 | 1 | May 6, 2021 |
CHD7 | 1 | Oct 4, 2022 |
CHD8 | 1 | Apr 15, 2025 |
CHN1 | 1 | Jun 28, 2023 |
CHRM1 | 1 | May 6, 2021 |
CIC | 1 | Oct 4, 2022 |
CIT | 1 | Apr 15, 2025 |
CLCN4 | 1 | Dec 7, 2022 |
CLTC | 2 | Apr 15, 2025 |
CNNM2 | 1 | May 6, 2021 |
CNOT1 | 2 | Apr 15, 2025 |
CNOT3 | 2 | Apr 15, 2025 |
CNTNAP2 | 1 | May 6, 2021 |
COL9A1 | 1 | May 6, 2021 |
CPA6 | 1 | Apr 15, 2025 |
CREBBP | 2 | May 6, 2021 |
CRYGS | 1 | May 6, 2021 |
CSNK2A1 | 3 | Apr 15, 2025 |
CTCF | 1 | Apr 15, 2025 |
CTNNB1 | 2 | Apr 15, 2025 |
DDX3X | 4 | Apr 15, 2025 |
DEAF1 | 1 | May 6, 2021 |
DEPDC5 | 1 | Apr 15, 2025 |
DIP2A | 1 | Apr 15, 2025 |
DLG3 | 1 | May 6, 2021 |
DLG4 | 1 | Oct 4, 2022 |
DLL1 | 1 | May 6, 2021 |
DNMT3A | 2 | May 6, 2021 |
DOCK6 | 1 | Oct 4, 2022 |
DONSON | 2 | May 6, 2021 |
DSCAM | 1 | May 6, 2021 |
DYM | 1 | Apr 15, 2025 |
DYNC1H1 | 1 | Oct 4, 2022 |
DYRK1A | 1 | May 6, 2021 |
EBF3 | 1 | May 6, 2021 |
EIF2B5 | 2 | May 6, 2021 |
EP300 | 3 | Apr 15, 2025 |
ERF | 2 | May 6, 2021 |
FBXO11 | 5 | Apr 15, 2025 |
FBXO28 | 1 | May 6, 2021 |
FLNA | 1 | May 6, 2021 |
FLNB | 1 | May 6, 2021 |
FMR1 | 2 | Oct 4, 2022 |
FOXG1 | 1 | Apr 15, 2025 |
FOXP1 | 2 | Apr 15, 2025 |
FOXP2 | 1 | May 6, 2021 |
FTSJ1 | 1 | Apr 15, 2025 |
GABRB3 | 1 | May 6, 2021 |
GHR | 2 | May 6, 2021 |
GJB2 | 1 | Apr 15, 2025 |
GNB1 | 3 | Apr 15, 2025 |
GRIA2 | 1 | Oct 4, 2022 |
GRIN2A | 2 | Oct 4, 2022 |
GRIN2B | 3 | Oct 4, 2022 |
GSK3B | 1 | Apr 15, 2025 |
H4C5 | 1 | May 6, 2021 |
HACE1 | 2 | Oct 4, 2022 |
HECTD1 | 1 | Apr 15, 2025 |
HID1 | 2 | May 6, 2021 |
HNRNPD | 2 | Apr 15, 2025 |
HNRNPH2 | 1 | Oct 4, 2022 |
HNRNPUL2 | 1 | Apr 15, 2025 |
HNRNPUL2-BSCL2 | 1 | Apr 15, 2025 |
IDS | 1 | Oct 4, 2022 |
IL1RAPL1 | 1 | May 6, 2021 |
INPP5K | 2 | Oct 4, 2022 |
IQSEC2 | 3 | May 6, 2021 |
IRF2BPL | 1 | Apr 15, 2025 |
KAT6A | 1 | May 6, 2021 |
KAT6B | 1 | Apr 15, 2025 |
KCNB1 | 1 | Apr 15, 2025 |
KCNH1 | 1 | May 6, 2021 |
KCNQ2 | 1 | May 6, 2021 |
KDM3B | 2 | Apr 15, 2025 |
KDM5C | 1 | Apr 15, 2025 |
KDM6B | 1 | Apr 15, 2025 |
KLF9-DT | 1 | Oct 4, 2022 |
KMT2A | 5 | Apr 15, 2025 |
KMT2C | 1 | Apr 15, 2025 |
KMT2D | 1 | Apr 15, 2025 |
KMT2E | 2 | Apr 15, 2025 |
KMT5B | 2 | May 6, 2021 |
LHX4 | 1 | May 6, 2021 |
LOC102724058 | 1 | Oct 4, 2022 |
LOC125177523 | 1 | May 6, 2021 |
LOC126806658 | 1 | May 6, 2021 |
LOC126806878 | 1 | May 6, 2021 |
LOC126859827 | 1 | Apr 15, 2025 |
LOC126862479 | 1 | Oct 4, 2022 |
LOC126863158 | 1 | Apr 15, 2025 |
LOC126863275 | 1 | May 6, 2021 |
LOC129996027 | 1 | May 6, 2021 |
LOC129998292 | 1 | Oct 4, 2022 |
MAN2B1 | 1 | Apr 15, 2025 |
MANBA | 2 | Apr 15, 2025 |
MAP1B | 1 | Oct 4, 2022 |
MARK2 | 1 | Apr 15, 2025 |
MDGA2 | 1 | Oct 4, 2022 |
MEA1 | 1 | May 6, 2021 |
MECP2 | 2 | May 6, 2021 |
MED12 | 2 | Oct 4, 2022 |
MED13 | 1 | Oct 4, 2022 |
MED13L | 1 | May 6, 2021 |
MSH6 | 1 | Oct 4, 2022 |
MSL2 | 1 | Apr 15, 2025 |
MYH3 | 1 | Apr 15, 2025 |
NAA10 | 1 | Oct 4, 2022 |
NAA15 | 3 | Oct 4, 2022 |
NCAM1 | 1 | May 6, 2021 |
NCKAP1 | 1 | Oct 4, 2022 |
NF1 | 1 | Apr 15, 2025 |
NFIX | 1 | May 6, 2021 |
NIPBL | 1 | Apr 15, 2025 |
NONO | 1 | May 6, 2021 |
NR2F1 | 3 | Oct 4, 2022 |
NR2F1-AS1 | 1 | May 6, 2021 |
NR2F2 | 1 | Apr 15, 2025 |
NR3C2 | 1 | Apr 15, 2025 |
NSD1 | 1 | Apr 15, 2025 |
NSD2 | 1 | Apr 15, 2025 |
OFD1 | 1 | Apr 15, 2025 |
PABPC1 | 1 | Apr 15, 2025 |
PACS2 | 1 | May 6, 2021 |
PARD3B | 1 | Apr 15, 2025 |
PBX1 | 1 | May 6, 2021 |
PER3 | 1 | May 6, 2021 |
PHF21A | 1 | Oct 4, 2022 |
PHIP | 2 | Oct 4, 2022 |
PIK3CA | 1 | May 6, 2021 |
PKD1 | 1 | May 6, 2021 |
POGZ | 4 | Apr 15, 2025 |
PPP2R1A | 2 | May 6, 2021 |
PPP2R5C | 1 | May 6, 2021 |
PPP2R5D | 1 | May 6, 2021 |
PQBP1 | 2 | May 6, 2021 |
PRR12 | 2 | Apr 15, 2025 |
PTEN | 1 | May 6, 2021 |
PTPN11 | 1 | Apr 15, 2025 |
PURA | 1 | May 6, 2021 |
PUS7 | 1 | May 6, 2021 |
RAC1 | 1 | May 6, 2021 |
RAC3 | 1 | May 6, 2021 |
RAD21 | 1 | May 6, 2021 |
RAI1 | 2 | Apr 15, 2025 |
RALGAPB | 1 | Oct 4, 2022 |
RERE | 1 | Apr 15, 2025 |
RFX7 | 1 | Apr 15, 2025 |
RHEB | 1 | Apr 15, 2025 |
RLIM | 1 | May 6, 2021 |
RORA | 1 | May 6, 2021 |
RORA-AS1 | 1 | May 6, 2021 |
RPL36A-HNRNPH2 | 1 | Oct 4, 2022 |
RPS6KA3 | 1 | May 6, 2021 |
SATB2 | 1 | Apr 15, 2025 |
SCAF4 | 1 | Oct 4, 2022 |
SCN1A | 1 | Oct 4, 2022 |
SCN2A | 6 | Apr 15, 2025 |
SCN8A | 3 | Apr 15, 2025 |
SETBP1 | 1 | Apr 15, 2025 |
SETD1A | 3 | Apr 15, 2025 |
SETD1B | 2 | Apr 15, 2025 |
SETD5 | 2 | Oct 4, 2022 |
SGCB | 1 | May 6, 2021 |
SHANK1 | 3 | Apr 15, 2025 |
SHANK2 | 2 | Oct 4, 2022 |
SHANK3 | 4 | Apr 15, 2025 |
SIN3A | 4 | Apr 15, 2025 |
SMARCA5 | 1 | Oct 4, 2022 |
SMC3 | 2 | Apr 15, 2025 |
SNAP25 | 1 | Oct 4, 2022 |
SNX14 | 2 | Apr 15, 2025 |
SNX27 | 2 | May 6, 2021 |
SON | 3 | Apr 15, 2025 |
SOX5 | 1 | May 6, 2021 |
SPEN | 2 | Apr 15, 2025 |
SPTAN1 | 2 | May 6, 2021 |
SRCAP | 1 | May 6, 2021 |
STAG1 | 1 | May 6, 2021 |
STXBP1 | 1 | May 6, 2021 |
SYT1 | 1 | Apr 15, 2025 |
SZT2 | 1 | May 6, 2021 |
SZT2-AS1 | 1 | May 6, 2021 |
TAB2 | 2 | Apr 15, 2025 |
TAF1 | 1 | May 6, 2021 |
TBL1XR1 | 1 | May 6, 2021 |
TBL1XR1-AS1 | 1 | May 6, 2021 |
TCF12 | 2 | Apr 15, 2025 |
TCF20 | 3 | Apr 15, 2025 |
TLK2 | 3 | Oct 4, 2022 |
TMX2 | 2 | May 6, 2021 |
TMX2-CTNND1 | 2 | May 6, 2021 |
TPM3 | 1 | May 6, 2021 |
TRAF7 | 1 | May 6, 2021 |
TRIP12 | 3 | Apr 15, 2025 |
TRPM3 | 1 | Oct 4, 2022 |
TRRAP | 1 | Apr 15, 2025 |
TUBA1A | 1 | Oct 4, 2022 |
TUBB2A | 2 | Apr 15, 2025 |
UBTF | 1 | May 6, 2021 |
USP9X | 3 | May 6, 2021 |
WAC | 4 | Apr 15, 2025 |
WDR26 | 1 | May 6, 2021 |
WDR45 | 1 | May 6, 2021 |
YY1 | 1 | Oct 4, 2022 |
ZBTB18 | 1 | Oct 4, 2022 |
ZBTB7A | 1 | Apr 15, 2025 |
ZEB2 | 1 | May 6, 2021 |
ZMYM2 | 1 | Apr 15, 2025 |
ZMYND8 | 1 | Apr 15, 2025 |
ZNF292 | 3 | Apr 15, 2025 |