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Genetics Laboratory, UDIAT-Centre Diagnòstic (Hospital Universitari Parc Tauli), LdG

General information

Genetics Laboratory, UDIAT-Centre Diagnòstic, LdG
Hospital Universitari Parc Tauli
Parc Tauli 1
Sabadell
Spain - 08208

Organization ID: 508048

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 355

Gene

GeneSubmissionsLast Updated
ACTB2Apr 15, 2025
ACTR21Apr 15, 2025
ADGRL11Apr 15, 2025
ADGRL1-AS11Apr 15, 2025
ADNP4Oct 4, 2022
ADSL2Apr 15, 2025
AFF21Apr 15, 2025
AGO11May 6, 2021
AHDC12May 6, 2021
ANK21Apr 15, 2025
ANKRD1115Apr 15, 2025
AP1G12Oct 4, 2022
ARFGEF11Apr 15, 2025
ARID1A1Apr 15, 2025
ARID1B5Apr 15, 2025
ARID21Oct 4, 2022
ASCC11May 6, 2021
ASXL31Oct 4, 2022
ATXN7L3-AS11May 6, 2021
AUTS23Oct 4, 2022
BCL11A1Apr 15, 2025
BCL11B1Apr 15, 2025
BMP41May 6, 2021
BPTF2Apr 15, 2025
BRD41Oct 4, 2022
BRF12May 6, 2021
BRPF11May 6, 2021
CACNA1C1Apr 15, 2025
CACNA1D1May 6, 2021
CAMTA11Oct 4, 2022
CAPN32May 6, 2021
CCDC821Oct 4, 2022
CDC421May 6, 2021
CDK133Apr 15, 2025
CDKL51Apr 15, 2025
CELF21Oct 4, 2022
CFAP4101May 6, 2021
CHD71Oct 4, 2022
CHD81Apr 15, 2025
CHN11Jun 28, 2023
CHRM11May 6, 2021
CHRM1-AS11May 6, 2021
CIC1Oct 4, 2022
CIT1Apr 15, 2025
CLCN41Dec 7, 2022
CLTC2Apr 15, 2025
CNNM21May 6, 2021
CNOT12Apr 15, 2025
CNOT32Apr 15, 2025
CNTNAP21May 6, 2021
COL9A11May 6, 2021
CPA61Apr 15, 2025
CREBBP2May 6, 2021
CRYGS1May 6, 2021
CSNK2A13Apr 15, 2025
CTCF1Apr 15, 2025
CTNNB12Apr 15, 2025
DDX3X4Apr 15, 2025
DEAF11May 6, 2021
DEPDC51Apr 15, 2025
DIP2A1Apr 15, 2025
DLG31May 6, 2021
DLG41Oct 4, 2022
DLL11May 6, 2021
DNMT3A2May 6, 2021
DOCK61Oct 4, 2022
DONSON2May 6, 2021
DSCAM1May 6, 2021
DYM1Apr 15, 2025
DYNC1H11Oct 4, 2022
DYRK1A1May 6, 2021
EBF31May 6, 2021
EIF2B52May 6, 2021
EP3003Apr 15, 2025
ERF2May 6, 2021
FBXO115Apr 15, 2025
FBXO281May 6, 2021
FLNA1May 6, 2021
FLNB1May 6, 2021
FMR12Oct 4, 2022
FOXG11Apr 15, 2025
FOXP12Apr 15, 2025
FOXP21May 6, 2021
FTSJ11Apr 15, 2025
GABRB31May 6, 2021
GHR2May 6, 2021
GJB21Apr 15, 2025
GNB13Apr 15, 2025
GRIA21Oct 4, 2022
GRIN2A2Oct 4, 2022
GRIN2B3Oct 4, 2022
GSK3B1Apr 15, 2025
H4C51May 6, 2021
HACE12Oct 4, 2022
HECTD11Apr 15, 2025
HID12May 6, 2021
HNRNPD2Apr 15, 2025
HNRNPH21Oct 4, 2022
HNRNPUL21Apr 15, 2025
HNRNPUL2-BSCL21Apr 15, 2025
IDS1Oct 4, 2022
IL1RAPL11May 6, 2021
INPP5K2Oct 4, 2022
IQSEC23May 6, 2021
IRF2BPL1Apr 15, 2025
KAT6A1May 6, 2021
KAT6B1Apr 15, 2025
KCNB11Apr 15, 2025
KCNH11May 6, 2021
KCNQ21May 6, 2021
KDM3B2Apr 15, 2025
KDM5C1Apr 15, 2025
KDM6B1Apr 15, 2025
KLF9-DT1Oct 4, 2022
KMT2A5Apr 15, 2025
KMT2C1Apr 15, 2025
KMT2D1Apr 15, 2025
KMT2E2Apr 15, 2025
KMT5B2May 6, 2021
LHX41May 6, 2021
LOC1027240581Oct 4, 2022
LOC1251775231May 6, 2021
LOC1268066581May 6, 2021
LOC1268068781May 6, 2021
LOC1268598271Apr 15, 2025
LOC1268624791Oct 4, 2022
LOC1268631581Apr 15, 2025
LOC1268632751May 6, 2021
LOC1299960271May 6, 2021
LOC1299982921Oct 4, 2022
MAN2B11Apr 15, 2025
MANBA2Apr 15, 2025
MAP1B1Oct 4, 2022
MARK21Apr 15, 2025
MDGA21Oct 4, 2022
MEA11May 6, 2021
MECP22May 6, 2021
MED122Oct 4, 2022
MED131Oct 4, 2022
MED13L1May 6, 2021
MSH61Oct 4, 2022
MSL21Apr 15, 2025
MYH31Apr 15, 2025
NAA101Oct 4, 2022
NAA153Oct 4, 2022
NCAM11May 6, 2021
NCKAP11Oct 4, 2022
NF11Apr 15, 2025
NFIX1May 6, 2021
NIPBL1Apr 15, 2025
NONO1May 6, 2021
NR2F13Oct 4, 2022
NR2F1-AS11May 6, 2021
NR2F21Apr 15, 2025
NR3C21Apr 15, 2025
NSD11Apr 15, 2025
NSD21Apr 15, 2025
OFD11Apr 15, 2025
PABPC11Apr 15, 2025
PACS21May 6, 2021
PARD3B1Apr 15, 2025
PBX11May 6, 2021
PER31May 6, 2021
PHF21A1Oct 4, 2022
PHIP2Oct 4, 2022
PIK3CA1May 6, 2021
PKD11May 6, 2021
POGZ4Apr 15, 2025
PPP2R1A2May 6, 2021
PPP2R5C1May 6, 2021
PPP2R5D1May 6, 2021
PQBP12May 6, 2021
PRR122Apr 15, 2025
PTEN1May 6, 2021
PTPN111Apr 15, 2025
PURA1May 6, 2021
PUS71May 6, 2021
RAC11May 6, 2021
RAC31May 6, 2021
RAD211May 6, 2021
RAI12Apr 15, 2025
RALGAPB1Oct 4, 2022
RERE1Apr 15, 2025
RFX71Apr 15, 2025
RHEB1Apr 15, 2025
RLIM1May 6, 2021
RORA1May 6, 2021
RORA-AS11May 6, 2021
RPL36A-HNRNPH21Oct 4, 2022
RPS6KA31May 6, 2021
SATB21Apr 15, 2025
SCAF41Oct 4, 2022
SCN1A1Oct 4, 2022
SCN2A6Apr 15, 2025
SCN8A3Apr 15, 2025
SETBP11Apr 15, 2025
SETD1A3Apr 15, 2025
SETD1B2Apr 15, 2025
SETD52Oct 4, 2022
SGCB1May 6, 2021
SHANK13Apr 15, 2025
SHANK22Oct 4, 2022
SHANK34Apr 15, 2025
SIN3A4Apr 15, 2025
SMARCA51Oct 4, 2022
SMC32Apr 15, 2025
SNAP251Oct 4, 2022
SNX142Apr 15, 2025
SNX272May 6, 2021
SON3Apr 15, 2025
SOX51May 6, 2021
SPEN2Apr 15, 2025
SPTAN12May 6, 2021
SRCAP1May 6, 2021
STAG11May 6, 2021
STXBP11May 6, 2021
SYT11Apr 15, 2025
SZT21May 6, 2021
SZT2-AS11May 6, 2021
TAB22Apr 15, 2025
TAF11May 6, 2021
TBL1XR11May 6, 2021
TBL1XR1-AS11May 6, 2021
TCF122Apr 15, 2025
TCF203Apr 15, 2025
TLK23Oct 4, 2022
TMX22May 6, 2021
TMX2-CTNND12May 6, 2021
TPM31May 6, 2021
TRAF71May 6, 2021
TRIP123Apr 15, 2025
TRPM31Oct 4, 2022
TRRAP1Apr 15, 2025
TUBA1A1Oct 4, 2022
TUBB2A2Apr 15, 2025
UBTF1May 6, 2021
USP9X3May 6, 2021
WAC4Apr 15, 2025
WDR261May 6, 2021
WDR451May 6, 2021
YY11Oct 4, 2022
ZBTB181Oct 4, 2022
ZBTB7A1Apr 15, 2025
ZEB21May 6, 2021
ZMYM21Apr 15, 2025
ZMYND81Apr 15, 2025
ZNF2923Apr 15, 2025

Condition

NameSubmissionsLast Updated
4p partial monosomy syndrome1Apr 15, 2025
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Oct 4, 2022
Adams-Oliver syndrome 21Oct 4, 2022
Adenylosuccinate lyase deficiency2Apr 15, 2025
Arthrogryposis, distal, type 2B31Apr 15, 2025
Autism spectrum disorder5Apr 15, 2025
Autism spectrum disorder due to AUTS2 deficiency1Oct 4, 2022
Autosomal dominant non-syndromic intellectual disability3Oct 4, 2022
Autosomal dominant nonsyndromic hearing loss 3A1Apr 15, 2025
Autosomal recessive spinocerebellar ataxia 202Apr 15, 2025
Beta-D-mannosidosis2Apr 15, 2025
Blepharophimosis - intellectual disability syndrome, MKB type1Oct 4, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type1Apr 15, 2025
Bosch-Boonstra-Schaaf optic atrophy syndrome2Oct 4, 2022
CHARGE syndrome1Oct 4, 2022
CTCF-related neurodevelopmental disorder1Apr 15, 2025
Cardiac arrhythmia, ankyrin-B-related1Apr 15, 2025
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Oct 4, 2022
Chromosome 15q24 deletion syndrome1Apr 15, 2025
Chromosome 2q32-q33 deletion syndrome1Apr 15, 2025
Clark-Baraitser syndrome1Apr 15, 2025
Coffin-Siris syndrome 11Apr 15, 2025
Coffin-Siris syndrome 61Oct 4, 2022
Cognitive impairment with or without cerebellar ataxia1Apr 15, 2025
Complex cortical dysplasia with other brain malformations 51Apr 15, 2025
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder3Apr 15, 2025
Congenital heart defects, multiple types, 22Apr 15, 2025
Congenital heart defects, multiple types, 41Apr 15, 2025
Congenital muscular dystrophy with cataracts and intellectual disability2Oct 4, 2022
Cornelia de Lange syndrome 11Apr 15, 2025
Cornelia de Lange syndrome 31Apr 15, 2025
DeSanto-Shinawi syndrome due to WAC point mutation2Apr 15, 2025
Deficiency of alpha-mannosidase1Apr 15, 2025
Developmental and epileptic encephalopathy 971Oct 4, 2022
Developmental and epileptic encephalopathy, 113Apr 15, 2025
Developmental and epileptic encephalopathy, 131Oct 4, 2022
Developmental and epileptic encephalopathy, 21Apr 15, 2025
Developmental and epileptic encephalopathy, 261Apr 15, 2025
Developmental and epileptic encephalopathy, 6A1Oct 4, 2022
Developmental delay with or without dysmorphic facies and autism1Apr 15, 2025
Developmental delay with variable intellectual impairment and behavioral abnormalities2Apr 15, 2025
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders1Apr 15, 2025
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Apr 15, 2025
Dias-Logan syndrome1Apr 15, 2025
Diets-Jongmans syndrome2Apr 15, 2025
Dyggve-Melchior-Clausen syndrome1Apr 15, 2025
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation1Oct 4, 2022
Epilepsy, familial focal, with variable foci 11Apr 15, 2025
FOXG1 disorder1Apr 15, 2025
FRAXE1Apr 15, 2025
Fragile X syndrome1Oct 4, 2022
Gabriele de Vries syndrome1Oct 4, 2022
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Apr 15, 2025
Intellectual developmental disorder 611Oct 4, 2022
Intellectual developmental disorder 621Oct 4, 2022
Intellectual developmental disorder with autism and macrocephaly1Apr 15, 2025
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Oct 4, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities3Apr 15, 2025
Intellectual developmental disorder with seizures and language delay2Apr 15, 2025
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies2Apr 15, 2025
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Apr 15, 2025
Intellectual developmental disorder, autosomal dominant 643Apr 15, 2025
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities1Apr 15, 2025
Intellectual disability24Apr 15, 2025
Intellectual disability, X-linked 1021Apr 15, 2025
Intellectual disability, X-linked 91Apr 15, 2025
Intellectual disability, X-linked, syndromic, Bain type1Oct 4, 2022
Intellectual disability, autosomal dominant 131Oct 4, 2022
Intellectual disability, autosomal dominant 141Apr 15, 2025
Intellectual disability, autosomal dominant 221Oct 4, 2022
Intellectual disability, autosomal dominant 291Apr 15, 2025
Intellectual disability, autosomal dominant 423Apr 15, 2025
Intellectual disability, autosomal dominant 501Oct 4, 2022
Intellectual disability, autosomal dominant 561Apr 15, 2025
Intellectual disability, autosomal dominant 571Oct 4, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Oct 4, 2022
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Apr 15, 2025
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Apr 15, 2025
Joubert syndrome 101Apr 15, 2025
KBG syndrome12Apr 15, 2025
Kabuki syndrome 11Apr 15, 2025
Karayol-Borroto-Haghshenas neurodevelopmental syndrome1Apr 15, 2025
Kleefstra syndrome 21Apr 15, 2025
Lissencephaly due to TUBA1A mutation1Oct 4, 2022
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin1Apr 15, 2025
Microcephaly 17, primary, autosomal recessive1Apr 15, 2025
Microphthalmia, syndromic 11Oct 4, 2022
Mucopolysaccharidosis, MPS-II1Oct 4, 2022
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities1Apr 15, 2025
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies2Apr 15, 2025
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures1Apr 15, 2025
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Oct 4, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Apr 15, 2025
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Apr 15, 2025
Neurodevelopmental disorder with speech impairment and dysmorphic facies3Apr 15, 2025
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities1Apr 15, 2025
Neurofibromatosis, type 11Apr 15, 2025
Neuroocular syndrome 11Apr 15, 2025
Noonan syndrome 11Apr 15, 2025
O'Donnell-Luria-Rodan syndrome2Apr 15, 2025
Okur-Chung neurodevelopmental syndrome2Apr 15, 2025
Oromandibular-limb hypogenesis spectrum1Jun 28, 2023
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Oct 4, 2022
Periventricular nodular heterotopia 91Oct 4, 2022
Phelan-McDermid syndrome3Apr 15, 2025
Presynaptic congenital myasthenic syndrome1Oct 4, 2022
Radio-Tartaglia syndrome2Apr 15, 2025
Rare disease with autism2Oct 4, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3Apr 15, 2025
SIN3A-related intellectual disability syndrome due to a point mutation1Oct 4, 2022
See cases155Dec 7, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Oct 4, 2022
Severe intellectual disability-progressive spastic diplegia syndrome1Apr 15, 2025
Smith-Magenis syndrome2Apr 15, 2025
Sotos syndrome1Apr 15, 2025
Spastic paraplegia-severe developmental delay-epilepsy syndrome2Oct 4, 2022
Syndromic X-linked intellectual disability Claes-Jensen type1Apr 15, 2025
Usmani-Riazuddin syndrome, autosomal dominant2Oct 4, 2022
Vissers-Bodmer syndrome1Apr 15, 2025
Wiedemann-Steiner syndrome2Apr 15, 2025
X-linked intellectual disability-hypotonia-movement disorder syndrome2Oct 4, 2022
ZTTK syndrome2Apr 15, 2025