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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: 237

Gene

GeneSubmissionsLast Updated
ACTB1May 6, 2021
ADNP4Oct 4, 2022
AGO11May 6, 2021
AHDC12May 6, 2021
ANKRD118Oct 4, 2022
AP1G12Oct 4, 2022
ARID1B4May 6, 2021
ARID21Oct 4, 2022
ASCC11May 6, 2021
ASXL31Oct 4, 2022
ATXN7L3-AS11May 6, 2021
AUTS23Oct 4, 2022
BMP41May 6, 2021
BPTF1Oct 4, 2022
BRD41Oct 4, 2022
BRF12May 6, 2021
BRPF11May 6, 2021
CACNA1D1May 6, 2021
CAMTA11Oct 4, 2022
CAPN32May 6, 2021
CCDC821Oct 4, 2022
CDC421May 6, 2021
CDK132Oct 4, 2022
CELF21Oct 4, 2022
CFAP4101May 6, 2021
CHD71Oct 4, 2022
CHN11Jun 28, 2023
CHRM11May 6, 2021
CIC1Oct 4, 2022
CLCN41Dec 7, 2022
CLTC1May 6, 2021
CNNM21May 6, 2021
CNOT11May 6, 2021
CNTNAP21May 6, 2021
COL9A11May 6, 2021
CREBBP2May 6, 2021
CRYGS1May 6, 2021
CSNK2A12Oct 4, 2022
CTNNB11May 6, 2021
DDX3X3Oct 4, 2022
DEAF11May 6, 2021
DLG31May 6, 2021
DLG41Oct 4, 2022
DLL11May 6, 2021
DNMT3A2May 6, 2021
DOCK61Oct 4, 2022
DONSON2May 6, 2021
DSCAM1May 6, 2021
DYNC1H11Oct 4, 2022
DYRK1A1May 6, 2021
EBF31May 6, 2021
EIF2B52May 6, 2021
EP3002Oct 4, 2022
ERF2May 6, 2021
FBXO113Oct 4, 2022
FBXO281May 6, 2021
FLNA1May 6, 2021
FLNB1May 6, 2021
FMR12Oct 4, 2022
FOXP11May 6, 2021
FOXP21May 6, 2021
GABRB31May 6, 2021
GHR2May 6, 2021
GNB12Oct 4, 2022
GRIA21Oct 4, 2022
GRIN2A2Oct 4, 2022
GRIN2B3Oct 4, 2022
H4C51May 6, 2021
HACE12Oct 4, 2022
HID12May 6, 2021
HNRNPH21Oct 4, 2022
IDS1Oct 4, 2022
IL1RAPL11May 6, 2021
INPP5K2Oct 4, 2022
IQSEC23May 6, 2021
KAT6A1May 6, 2021
KCNH11May 6, 2021
KCNQ21May 6, 2021
KLF9-DT1Oct 4, 2022
KMT2A3May 6, 2021
KMT2E1Oct 4, 2022
KMT5B2May 6, 2021
LHX41May 6, 2021
LOC1027240581Oct 4, 2022
LOC1251775231May 6, 2021
LOC1268066581May 6, 2021
LOC1268068781May 6, 2021
LOC1268624791Oct 4, 2022
LOC1268632751May 6, 2021
LOC1299960271May 6, 2021
LOC1299982921Oct 4, 2022
MAP1B1Oct 4, 2022
MDGA21Oct 4, 2022
MEA11May 6, 2021
MECP22May 6, 2021
MED122Oct 4, 2022
MED131Oct 4, 2022
MED13L1May 6, 2021
MSH61Oct 4, 2022
NAA101Oct 4, 2022
NAA153Oct 4, 2022
NCAM11May 6, 2021
NCKAP11Oct 4, 2022
NFIX1May 6, 2021
NONO1May 6, 2021
NR2F13Oct 4, 2022
NR2F1-AS11May 6, 2021
PACS21May 6, 2021
PBX11May 6, 2021
PER31May 6, 2021
PHF21A1Oct 4, 2022
PHIP2Oct 4, 2022
PIK3CA1May 6, 2021
PKD11May 6, 2021
POGZ3May 6, 2021
PPP2R1A2May 6, 2021
PPP2R5C1May 6, 2021
PPP2R5D1May 6, 2021
PQBP12May 6, 2021
PRR121Oct 4, 2022
PTEN1May 6, 2021
PURA1May 6, 2021
PUS71May 6, 2021
RAC11May 6, 2021
RAC31May 6, 2021
RAD211May 6, 2021
RALGAPB1Oct 4, 2022
RLIM1May 6, 2021
RORA1May 6, 2021
RORA-AS11May 6, 2021
RPL36A-HNRNPH21Oct 4, 2022
RPS6KA31May 6, 2021
SCAF41Oct 4, 2022
SCN1A1Oct 4, 2022
SCN2A4Oct 4, 2022
SCN8A2Oct 4, 2022
SETD1A1Oct 4, 2022
SETD52Oct 4, 2022
SGCB1May 6, 2021
SHANK12Oct 4, 2022
SHANK22Oct 4, 2022
SHANK32Oct 4, 2022
SIN3A3Oct 4, 2022
SMARCA51Oct 4, 2022
SMC31May 6, 2021
SNAP251Oct 4, 2022
SNX272May 6, 2021
SON2Oct 4, 2022
SOX51May 6, 2021
SPEN1Oct 4, 2022
SPTAN12May 6, 2021
SRCAP1May 6, 2021
STAG11May 6, 2021
STXBP11May 6, 2021
SZT21May 6, 2021
SZT2-AS11May 6, 2021
TAB21Oct 4, 2022
TAF11May 6, 2021
TBL1XR11May 6, 2021
TBL1XR1-AS11May 6, 2021
TCF201May 6, 2021
TLK23Oct 4, 2022
TMX22May 6, 2021
TMX2-CTNND12May 6, 2021
TPM31May 6, 2021
TRAF71May 6, 2021
TRIP122May 6, 2021
TRPM31Oct 4, 2022
TUBA1A1Oct 4, 2022
TUBB2A1May 6, 2021
UBTF1May 6, 2021
USP9X3May 6, 2021
WAC2May 6, 2021
WDR261May 6, 2021
WDR451May 6, 2021
YY11Oct 4, 2022
ZBTB181Oct 4, 2022
ZEB21May 6, 2021
ZNF2922Oct 4, 2022

Condition

NameSubmissionsLast Updated
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Oct 4, 2022
Adams-Oliver syndrome 21Oct 4, 2022
Autism spectrum disorder due to AUTS2 deficiency1Oct 4, 2022
Autosomal dominant non-syndromic intellectual disability3Oct 4, 2022
Blepharophimosis - intellectual disability syndrome, MKB type1Oct 4, 2022
Bosch-Boonstra-Schaaf optic atrophy syndrome2Oct 4, 2022
CHARGE association1Oct 4, 2022
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Oct 4, 2022
Coffin-Siris syndrome 61Oct 4, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Oct 4, 2022
Congenital heart defects, multiple types, 21Oct 4, 2022
Congenital muscular dystrophy with cataracts and intellectual disability2Oct 4, 2022
Developmental and epileptic encephalopathy 971Oct 4, 2022
Developmental and epileptic encephalopathy, 112Oct 4, 2022
Developmental and epileptic encephalopathy, 131Oct 4, 2022
Developmental and epileptic encephalopathy, 61Oct 4, 2022
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation1Oct 4, 2022
Fragile X syndrome1Oct 4, 2022
Gabriele de Vries syndrome1Oct 4, 2022
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome2Oct 4, 2022
Intellectual developmental disorder 611Oct 4, 2022
Intellectual developmental disorder 621Oct 4, 2022
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Oct 4, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Oct 4, 2022
Intellectual developmental disorder, autosomal dominant 642Oct 4, 2022
Intellectual disability10Oct 4, 2022
Intellectual disability, X-linked, syndromic, Bain type1Oct 4, 2022
Intellectual disability, autosomal dominant 131Oct 4, 2022
Intellectual disability, autosomal dominant 221Oct 4, 2022
Intellectual disability, autosomal dominant 501Oct 4, 2022
Intellectual disability, autosomal dominant 571Oct 4, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Oct 4, 2022
KBG syndrome5Oct 4, 2022
Lissencephaly due to TUBA1A mutation1Oct 4, 2022
Microphthalmia, syndromic 11Oct 4, 2022
Mucopolysaccharidosis, MPS-II1Oct 4, 2022
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Oct 4, 2022
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Oct 4, 2022
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Oct 4, 2022
O'Donnell-Luria-Rodan syndrome1Oct 4, 2022
Okur-Chung neurodevelopmental syndrome1Oct 4, 2022
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 syndrome1Oct 4, 2022
Presynaptic congenital myasthenic syndrome1Oct 4, 2022
Radio-Tartaglia syndrome1Oct 4, 2022
Rare disease with autism2Oct 4, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency2Oct 4, 2022
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
Spastic paraplegia-severe developmental delay-epilepsy syndrome2Oct 4, 2022
Usmani-Riazuddin syndrome, autosomal dominant2Oct 4, 2022
X-linked intellectual disability-hypotonia-movement disorder syndrome2Oct 4, 2022
ZTTK syndrome1Oct 4, 2022