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Laboratory of Medical Genetics (University of Torino), LabA17-DSM

General information

Laboratory of Medical Genetics, LabA17-DSM
University of Torino
via Santena, 19
Torino
Piemonte
Italy - 10126
http://www.dsm.unito.it/do/home.pl
Organization ID: 506722

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 215

Gene

GeneSubmissionsLast Updated
ACSL41Oct 9, 2022
ACTB1Dec 7, 2022
ADNP2Nov 3, 2023
AFF31Dec 7, 2022
AHDC11Dec 7, 2022
ANKRD113Nov 3, 2023
ARID1A1Nov 3, 2023
ARID1B4Nov 3, 2023
ASH1L1Mar 22, 2021
ATP1A31Dec 7, 2022
ATP7A1Dec 7, 2022
ATRX2Dec 7, 2022
BRAT11Dec 7, 2022
BRWD32Nov 3, 2023
BSCL21Dec 7, 2022
C1orf1051Dec 7, 2022
CASK1Dec 7, 2022
CCM21Oct 6, 2021
CCT51Dec 7, 2022
CDK131Dec 7, 2022
CDK5RAP21Dec 7, 2022
CHD72Nov 3, 2023
CHD81Dec 7, 2022
CNKSR21Dec 7, 2022
CNTNAP21Dec 7, 2022
CREBBP1Dec 7, 2022
DCC1Dec 7, 2022
DDB11Dec 7, 2022
DDX3X1Dec 7, 2022
DEAF11Dec 7, 2022
DHDDS1Dec 7, 2022
DLG31Dec 7, 2022
DLG41Dec 7, 2022
DLL11Dec 7, 2022
DNM11Dec 7, 2022
EHMT14Nov 3, 2023
EP3001Dec 7, 2022
EZH21Nov 3, 2023
FANCB1Dec 7, 2022
FMR11Dec 7, 2022
FOXP12Dec 7, 2022
GLA1Dec 7, 2022
GLI21Dec 7, 2022
GLRA21Dec 7, 2022
GRIA31Dec 7, 2022
GRIN11Dec 7, 2022
GRIN2B1Dec 7, 2022
H1-41Nov 3, 2023
H3-3B1Dec 7, 2022
HNRNPH21Dec 7, 2022
HNRNPU10Dec 28, 2022
HNRNPUL2-BSCL21Dec 7, 2022
HTT1Dec 7, 2022
HUWE11Dec 7, 2022
HYLS11Dec 7, 2022
IDS1Dec 7, 2022
IQSEC22Dec 7, 2022
IRAK11Dec 7, 2022
IRF2BPL2Dec 7, 2022
KAT6A1Nov 3, 2023
KCNC21Dec 7, 2022
KCNH11Dec 7, 2022
KCNK181Dec 7, 2022
KCNT12Dec 7, 2022
KCNT21Dec 7, 2022
KDM4B1Dec 7, 2022
KDM5C1Oct 9, 2022
KDM6A1Dec 7, 2022
KMT2A3Nov 3, 2023
KMT2C1Dec 7, 2022
KMT2D2Nov 3, 2023
KRIT13Oct 6, 2021
LAMA22Dec 7, 2022
LOC1019283351Mar 22, 2021
LOC1268619803Sep 19, 2018
LOC1300060991Dec 7, 2022
LOC1300632441Dec 7, 2022
MAGEL21Dec 7, 2022
MAGT11Dec 7, 2022
MECP21Oct 9, 2022
MED13L1Dec 7, 2022
MEIS21Dec 7, 2022
MID21Mar 22, 2021
MKS11Dec 7, 2022
MTOR1Dec 7, 2022
MYO7A1Dec 7, 2022
MYT1L1Dec 7, 2022
NAA101Oct 9, 2022
NAA152Dec 7, 2022
NALCN1Dec 7, 2022
NBAS3Nov 7, 2018
NF11Dec 7, 2022
NFIX1Dec 7, 2022
NOTCH31Oct 6, 2021
NOVA21Dec 7, 2022
OPHN11Dec 7, 2022
OTUD51Oct 9, 2022
PACS12Dec 7, 2022
PAH1Mar 22, 2021
PAK31Dec 7, 2022
PDCD102Oct 6, 2021
PDZD42Oct 9, 2022
PHF61Oct 9, 2022
PHF81Dec 7, 2022
PI4KA1Dec 7, 2022
PIGC1Dec 7, 2022
PIGG1Dec 7, 2022
PIGN1Dec 7, 2022
PIK3CA1Dec 7, 2022
PMPCA1Dec 7, 2022
PPM1D2Dec 7, 2022
PQBP13Nov 3, 2023
PRR121Dec 7, 2022
PSEN11Apr 3, 2023
PTEN2Dec 7, 2022
PTPN111Dec 7, 2022
PUS31Dec 7, 2022
RAB3GAP11Mar 22, 2021
RAI11Mar 22, 2021
RBM101Dec 7, 2022
RPE651Dec 7, 2022
RPL101Dec 7, 2022
RPL36A-HNRNPH22Dec 7, 2022
SCN2A2Dec 7, 2022
SCN8A1Dec 7, 2022
SETBP11Dec 7, 2022
SETD1B1Dec 7, 2022
SETD52Nov 3, 2023
SHANK33Dec 7, 2022
SLC13A51Dec 7, 2022
SLC1A21Dec 7, 2022
SLC20A29Nov 30, 2018
SLC6A81Dec 7, 2022
SMARCA22Nov 3, 2023
SMARCA42Nov 3, 2023
SMARCB11Nov 3, 2023
SMC1A1Nov 3, 2023
SMOC15Sep 19, 2018
SON1Dec 7, 2022
SOX111Dec 7, 2022
SPOP1Dec 7, 2022
SRCAP1Dec 7, 2022
ST3GAL31Dec 7, 2022
SYNGAP11Dec 7, 2022
SYNGAP1-AS11Dec 7, 2022
TAF11Oct 9, 2022
TCF41Dec 7, 2022
THOC21Dec 7, 2022
THOC61Dec 7, 2022
TLK26Dec 7, 2022
TRRAP2Dec 7, 2022
UNC801Dec 7, 2022
WDR261Dec 7, 2022
WDR371Dec 7, 2022
ZBTB181Dec 7, 2022
ZEB22Dec 7, 2022
ZMYM31Oct 9, 2022
ZNF2921Dec 7, 2022

Condition

NameSubmissionsLast Updated
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Nov 3, 2023
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Dec 7, 2022
Abnormal facial shape2Oct 9, 2022
Alzheimer disease 31Apr 3, 2023
Apneic episodes in infancy1Dec 7, 2022
Autism1Oct 9, 2022
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Nov 3, 2023
Autosomal recessive spinocerebellar ataxia 21Dec 7, 2022
Baraitser-Winter syndrome 11Dec 7, 2022
Bardet-Biedl syndrome 131Dec 7, 2022
Blepharophimosis-impaired intellectual development syndrome1Dec 7, 2022
Borjeson-Forssman-Lehmann syndrome1Oct 9, 2022
Bryant-Li-Bhoj neurodevelopmental syndrome 21Dec 7, 2022
CHARGE syndrome2Nov 3, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Dec 7, 2022
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Dec 7, 2022
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Dec 7, 2022
Cerebral cavernous malformation7Oct 6, 2021
Cleft palate1Dec 7, 2022
Coarse facial features1Oct 9, 2022
Coffin-Siris syndrome 14Nov 3, 2023
Cognitive impairment with or without cerebellar ataxia1Dec 7, 2022
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Dec 7, 2022
Congenital disorder of glycosylation, type ICC1Dec 7, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Dec 7, 2022
Congenital muscular hypertrophy-cerebral syndrome1Nov 3, 2023
Cortical dysplasia-focal epilepsy syndrome1Dec 7, 2022
Creatine transporter deficiency1Dec 7, 2022
Developmental and epileptic encephalopathy 1031Dec 7, 2022
Developmental and epileptic encephalopathy, 112Dec 7, 2022
Developmental and epileptic encephalopathy, 142Dec 7, 2022
Developmental and epileptic encephalopathy, 151Dec 7, 2022
Developmental and epileptic encephalopathy, 251Dec 7, 2022
Developmental and epileptic encephalopathy, 311Dec 7, 2022
Developmental and epileptic encephalopathy, 411Dec 7, 2022
Developmental and epileptic encephalopathy, 5410Dec 28, 2022
Developmental and epileptic encephalopathy, 571Dec 7, 2022
Developmental delay and seizures with or without movement abnormalities1Dec 7, 2022
Developmental delay with or without dysmorphic facies and autism2Dec 7, 2022
FG syndrome 41Dec 7, 2022
Fabry disease1Dec 7, 2022
Fetal distress1Dec 7, 2022
Floating-Harbor syndrome1Dec 7, 2022
Fragile X syndrome1Dec 7, 2022
Gaze palsy, familial horizontal, with progressive scoliosis, 21Dec 7, 2022
Global developmental delay2Dec 7, 2022
Glycosylphosphatidylinositol biosynthesis defect 161Dec 7, 2022
Hand tremor1Oct 9, 2022
Hereditary sensory and autonomic neuropathy with spastic paraplegia1Dec 7, 2022
High palate1Dec 7, 2022
Hyperactivity1Oct 9, 2022
Hyporeflexia1Oct 9, 2022
Hypospadias1Dec 7, 2022
Hypotonia1Oct 9, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Dec 7, 2022
Idiopathic basal ganglia calcification 19Nov 30, 2018
Infantile liver failure syndrome 23Nov 7, 2018
Inguinal hernia1Dec 7, 2022
Intellectual developmental disorder 621Dec 7, 2022
Intellectual developmental disorder with autism and macrocephaly1Dec 7, 2022
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold2Dec 7, 2022
Intellectual developmental disorder with seizures and language delay1Dec 7, 2022
Intellectual developmental disorder, X-linked, syndromic, Pilorge type1Dec 7, 2022
Intellectual developmental disorder, autosomal dominant 641Dec 7, 2022
Intellectual developmental disorder, autosomal dominant 651Dec 7, 2022
Intellectual disability1Oct 9, 2022
Intellectual disability, X-linked 12Dec 7, 2022
Intellectual disability, X-linked 1011Mar 22, 2021
Intellectual disability, X-linked 1021Dec 7, 2022
Intellectual disability, X-linked 301Dec 7, 2022
Intellectual disability, X-linked 631Oct 9, 2022
Intellectual disability, X-linked 901Dec 7, 2022
Intellectual disability, X-linked 932Nov 3, 2023
Intellectual disability, X-linked syndromic, Turner type1Dec 7, 2022
Intellectual disability, X-linked, syndromic 331Oct 9, 2022
Intellectual disability, X-linked, syndromic, 351Dec 7, 2022
Intellectual disability, X-linked, syndromic, Bain type1Dec 7, 2022
Intellectual disability, X-linked, syndromic, Houge type1Dec 7, 2022
Intellectual disability, autosomal dominant 141Nov 3, 2023
Intellectual disability, autosomal dominant 151Nov 3, 2023
Intellectual disability, autosomal dominant 162Nov 3, 2023
Intellectual disability, autosomal dominant 221Dec 7, 2022
Intellectual disability, autosomal dominant 241Dec 7, 2022
Intellectual disability, autosomal dominant 271Dec 7, 2022
Intellectual disability, autosomal dominant 291Dec 7, 2022
Intellectual disability, autosomal dominant 391Dec 7, 2022
Intellectual disability, autosomal dominant 51Dec 7, 2022
Intellectual disability, autosomal dominant 502Dec 7, 2022
Intellectual disability, autosomal dominant 521Mar 22, 2021
Intellectual disability, autosomal dominant 577Dec 7, 2022
Intellectual disability, autosomal dominant 61Dec 7, 2022
Intellectual disability, autosomal dominant 81Dec 7, 2022
Intellectual disability, autosomal recessive 531Dec 7, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2Nov 3, 2023
Intellectual disability-hypotonic facies syndrome, X-linked, 12Dec 7, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome2Dec 7, 2022
KBG syndrome3Nov 3, 2023
KINSSHIP syndrome1Dec 7, 2022
Kabuki syndrome 12Nov 3, 2023
Kabuki syndrome 21Dec 7, 2022
Kleefstra syndrome 14Nov 3, 2023
Kleefstra syndrome 21Dec 7, 2022
Kyphoscoliosis1Oct 9, 2022
LEOPARD syndrome 11Dec 7, 2022
Leber congenital amaurosis 21Dec 7, 2022
Lopes-Maciel-Rodan syndrome1Dec 7, 2022
Macrocephaly1Dec 7, 2022
Macrocephaly-autism syndrome2Dec 7, 2022
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Dec 7, 2022
Malan overgrowth syndrome1Dec 7, 2022
Menkes kinky-hair syndrome1Dec 7, 2022
Microcephaly1Oct 9, 2022
Microcephaly 3, primary, autosomal recessive1Dec 7, 2022
Microphthalmia with limb anomalies5Sep 19, 2018
Migraine, with or without aura, susceptibility to, 131Dec 7, 2022
Movement disorder1Oct 9, 2022
Mowat-Wilson syndrome2Dec 7, 2022
Mucopolysaccharidosis, MPS-II1Dec 7, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 11Dec 7, 2022
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked1Oct 9, 2022
Muscular dystrophy, limb-girdle, autosomal recessive 232Dec 7, 2022
Neonatal hypotonia1Oct 9, 2022
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1Dec 7, 2022
Neurodevelopmental disorder with microcephaly and dysmorphic facies1Dec 7, 2022
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Dec 7, 2022
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities1Dec 7, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures2Dec 7, 2022
Neurofibromatosis, type 11Dec 7, 2022
Neuroocular syndrome1Dec 7, 2022
Neurooculocardiogenitourinary syndrome1Dec 7, 2022
Nicolaides-Baraitser syndrome1Nov 3, 2023
Ogden syndrome1Oct 9, 2022
Phelan-McDermid syndrome3Dec 7, 2022
Phenylketonuria1Mar 22, 2021
Pitt-Hopkins syndrome1Dec 7, 2022
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1Dec 7, 2022
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1Dec 7, 2022
Rahman syndrome1Nov 3, 2023
Renpenning syndrome3Nov 3, 2023
Rett syndrome1Oct 9, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations1Dec 7, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Dec 7, 2022
Schaaf-Yang syndrome1Dec 7, 2022
Schuurs-Hoeijmakers syndrome2Dec 7, 2022
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1Dec 7, 2022
Severe neurodegenerative syndrome with lipodystrophy1Dec 7, 2022
Skraban-Deardorff syndrome1Dec 7, 2022
Smith-Magenis syndrome1Mar 22, 2021
Syndromic X-linked intellectual disability 941Dec 7, 2022
Syndromic X-linked intellectual disability Claes-Jensen type1Oct 9, 2022
Syndromic X-linked intellectual disability Siderius type1Dec 7, 2022
TARP syndrome1Dec 7, 2022
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome1Dec 7, 2022
Temple-Baraitser syndrome1Dec 7, 2022
Unilateral ptosis1Dec 7, 2022
Usher syndrome type 11Dec 7, 2022
Warburg micro syndrome 11Mar 22, 2021
Weaver syndrome1Nov 3, 2023
White-Kernohan syndrome1Dec 7, 2022
Wiedemann-Steiner syndrome3Nov 3, 2023
X-linked intellectual disability-cerebellar hypoplasia syndrome1Dec 7, 2022
X-linked intellectual disability-short stature-overweight syndrome1Dec 7, 2022
ZTTK syndrome1Dec 7, 2022