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Breda Genetics srl, Breda Genetics srl

General information

Breda Genetics srl, Breda Genetics srl

Via Cipro, 1
Brescia
Italy - 25124
https://bredagenetics.com/
Organization ID: 506812

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 207

Gene

GeneSubmissionsLast Updated
AARS11Oct 4, 2021
ABCA122Mar 22, 2021
ABCD41Oct 5, 2021
ACAN1Oct 4, 2021
AGRN1Sep 30, 2021
AHI12Sep 1, 2020
ALDH18A11Oct 11, 2021
ANAPC151Oct 4, 2021
ANK21Sep 29, 2021
AP2M11Oct 4, 2021
ARID21Oct 7, 2021
ASXL31Sep 30, 2021
ATAD3A1Sep 30, 2021
AUTS22Oct 4, 2021
BMPR1B1Sep 30, 2021
C19orf121Oct 4, 2021
C4B1Oct 4, 2021
CACNA1A1Jun 15, 2020
CACNB41Oct 7, 2021
CASTOR31Apr 21, 2020
CAV31Oct 6, 2021
CCN61Apr 21, 2020
CDK131Oct 6, 2021
CFAP2981Oct 5, 2021
CFAP298-TCP10L1Oct 5, 2021
CHRNA41Nov 17, 2020
CIC1Oct 11, 2021
COL12A11Oct 11, 2021
COL1A12Mar 23, 2021
COL6A31Oct 11, 2021
COL7A12Mar 4, 2021
COQ8A1Oct 6, 2021
CRYGA1Jun 25, 2021
CUL4B1Oct 4, 2021
CUL71Apr 21, 2020
DDHD11Oct 6, 2021
DLL11Sep 30, 2021
DNM11Mar 18, 2021
DNM21Oct 8, 2021
DSG21Sep 29, 2021
DST1Oct 6, 2021
EBF31Oct 11, 2021
EDC31Oct 4, 2021
EHMT11Sep 1, 2020
ENG1Jun 11, 2020
ERCC61Oct 7, 2021
ERCC6-PGBD31Oct 7, 2021
ERCC81Feb 1, 2019
ERLIN21Sep 28, 2021
ERMARD1Oct 4, 2021
EVC1Oct 6, 2021
EXT11Jul 31, 2019
EXT21Mar 25, 2021
FBN21Sep 1, 2020
FBXO111Sep 30, 2021
FGFR31Aug 3, 2020
FLAD11Oct 8, 2021
FLNB1Mar 25, 2021
FMN21Oct 4, 2021
FN11Oct 8, 2021
FOXC11Oct 4, 2021
GAA2Oct 7, 2021
GALT1Aug 4, 2020
GJB21Oct 11, 2021
GPHN1Nov 19, 2020
GRIA42Oct 11, 2021
GRIN2B1Nov 17, 2020
H1-41Mar 4, 2021
HELLS1Mar 4, 2021
HIVEP21Oct 11, 2021
HNRNPH21Nov 19, 2020
HUWE11Sep 30, 2021
IFIH11Oct 5, 2021
IKBKB1Oct 4, 2021
IRF2BPL1Mar 22, 2021
KANSL11Oct 11, 2021
KAT51Oct 11, 2021
KCNMA11Oct 11, 2021
KCNMA1-AS11Oct 11, 2021
KCNQ21Aug 3, 2020
KDM5C1Apr 21, 2020
KDM6A1Nov 19, 2020
KIF141Oct 11, 2021
KMT2C1Oct 4, 2021
KMT2D2Mar 29, 2021
L2HGDH2Oct 8, 2021
LAMA24Jun 25, 2021
LDB31Sep 30, 2021
LRP51Oct 8, 2021
LRTOMT1Oct 4, 2021
MACF11Oct 11, 2021
MANBA1Nov 18, 2020
MAP1B1Mar 18, 2021
MCM91Oct 4, 2021
MED12L1Oct 4, 2021
MEGF101Sep 30, 2021
METTL51Sep 30, 2021
MORC21Sep 30, 2021
MT-ND61Mar 4, 2021
MT-TK1Oct 11, 2021
MTMR21Oct 6, 2021
MYLK21Sep 29, 2021
MYO7A1Oct 4, 2021
MYO9A1Sep 30, 2021
NAGS1Sep 30, 2021
NDUFB112Oct 7, 2021
NDUFS13Oct 7, 2021
NEB2Oct 5, 2021
NOD21Mar 24, 2020
NPC11Jul 13, 2020
NRXN11Mar 25, 2021
NSUN21Oct 4, 2021
NT5C21Mar 25, 2021
P2RY121Oct 4, 2021
PACS11Nov 17, 2020
PCDH191Mar 4, 2021
PCLO1Oct 7, 2021
PHEX1Sep 1, 2020
PIGU1Oct 7, 2021
PJVK1Oct 4, 2021
PKD11Mar 4, 2021
PKD21Mar 23, 2021
PLEKHG22Oct 11, 2021
POLR2A1Mar 18, 2021
POMGNT21Oct 11, 2021
PROKR21Oct 4, 2021
PTEN1Nov 17, 2020
PURA1Jul 1, 2019
QARS11Sep 1, 2020
RBP31Apr 21, 2020
RDH121Nov 19, 2020
REEP11Oct 6, 2021
RERE1Nov 23, 2020
RHOBTB21Mar 18, 2021
RIF11Oct 5, 2021
RNF131Sep 30, 2021
RORA1Sep 30, 2021
RORA-AS11Sep 30, 2021
RPGR1Mar 30, 2021
RPL36A-HNRNPH21Nov 19, 2020
RUSC21Sep 30, 2021
SAMD91Oct 6, 2021
SATB21Nov 19, 2020
SBF11Sep 30, 2021
SCN1A1Sep 29, 2021
SCN1A-AS11Mar 26, 2021
SCN5A1Oct 7, 2021
SCN9A1Mar 26, 2021
SELENON1Mar 26, 2021
SETD1B1Oct 7, 2021
SETD51Sep 30, 2021
SIN3A1Oct 4, 2021
SKI1Sep 30, 2021
SLC12A12Oct 11, 2021
SLC52A21Sep 30, 2021
SLC7A6OS1Oct 7, 2021
SMARCA21Mar 23, 2021
SMC1A2Nov 19, 2020
SNAP251Sep 30, 2021
SNHG311Mar 22, 2021
SNIP11Sep 30, 2021
SNX141Sep 30, 2021
SON1Oct 4, 2021
SP71Mar 23, 2021
SPECC1L1Oct 6, 2021
SPECC1L-ADORA2A1Oct 6, 2021
SPINK51Oct 7, 2021
SSUH21Oct 6, 2021
STAG32Apr 21, 2020
STT3A1Oct 4, 2021
SYNE11Oct 8, 2021
SYNE21Apr 22, 2022
TAF131Oct 4, 2021
TBCE1Oct 4, 2021
TCN21Apr 21, 2020
TJP21Oct 6, 2021
TMEM38B1Oct 8, 2021
TNFRSF13B1Mar 30, 2021
TNXB1Mar 30, 2021
TOMT1Oct 4, 2021
TPK11Apr 21, 2020
TPM21Aug 31, 2020
TRAPPC91Sep 1, 2020
TRIP121Mar 3, 2021
TTN2Sep 30, 2021
TTR1Sep 28, 2021
TUBGCP41Oct 4, 2021
UNC805Oct 7, 2021
UROD1Sep 30, 2021
VSX11Jul 7, 2020
WASHC51Oct 11, 2021
WFS12Sep 28, 2021
WNT10A1Feb 8, 2019
ZIC31Oct 5, 2021
ZMIZ11Apr 21, 2020

Condition

NameSubmissionsLast Updated
3M syndrome 11Apr 21, 2020
46,XX ovarian dysgenesis-short stature syndrome1Oct 4, 2021
Aicardi-Goutieres syndrome 71Oct 5, 2021
Amyloidogenic transthyretin amyloidosis1Sep 28, 2021
Apnea1Jul 1, 2019
Arrhythmogenic right ventricular dysplasia 101Sep 29, 2021
Arthrogryposis, distal, type 1A1Aug 31, 2020
Autism spectrum disorder due to AUTS2 deficiency2Oct 4, 2021
Autoinflammatory syndrome1Mar 24, 2020
Autosomal dominant centronuclear myopathy1Oct 8, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 11Nov 17, 2020
Autosomal recessive ataxia due to ubiquinone deficiency1Oct 6, 2021
Autosomal recessive ataxia, Beauce type1Oct 8, 2021
Autosomal recessive complex spastic paraplegia type 9B1Oct 11, 2021
Autosomal recessive congenital ichthyosis 4A2Mar 22, 2021
Autosomal recessive nonsyndromic hearing loss 1A1Oct 11, 2021
Autosomal recessive nonsyndromic hearing loss 21Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 591Oct 4, 2021
Autosomal recessive nonsyndromic hearing loss 631Oct 4, 2021
Autosomal recessive spinocerebellar ataxia 201Sep 30, 2021
Axenfeld-Rieger syndrome type 31Oct 4, 2021
Bartter disease type 12Oct 11, 2021
Beta-D-mannosidosis1Nov 18, 2020
Bethlem myopathy 11Oct 11, 2021
Bethlem myopathy 21Oct 11, 2021
Brachydactyly type A1D1Sep 30, 2021
Brachydactyly type A21Sep 30, 2021
Brown-Vialetto-van Laere syndrome 21Sep 30, 2021
COL1A1-related osteogenesis imperfecta1Mar 23, 2021
COL7A1-related epidermolysis bullosa2Mar 4, 2021
Cardiac arrhythmia, ankyrin-B-related1Sep 29, 2021
Charcot-Marie-Tooth disease axonal type 2Z1Sep 30, 2021
Charcot-Marie-Tooth disease type 4B11Oct 6, 2021
Charcot-Marie-Tooth disease type 4B31Sep 30, 2021
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1Apr 21, 2020
Cholestasis, progressive familial intrahepatic, 41Oct 6, 2021
Chromosome 2q32-q33 deletion syndrome1Nov 19, 2020
Clark-Baraitser syndrome1Mar 3, 2021
Cockayne syndrome type 12Feb 1, 2019
Cockayne syndrome type 21Oct 7, 2021
Coffin-Siris syndrome 61Oct 7, 2021
Complement component 4b deficiency1Oct 4, 2021
Congenital contractural arachnodactyly1Sep 1, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Oct 6, 2021
Congenital muscular hypertrophy-cerebral syndrome1Nov 19, 2020
Congenital myasthenic syndrome 81Sep 30, 2021
Congenital myopathy with fiber type disproportion1Mar 26, 2021
Craniofacial anomalies and anterior segment dysgenesis syndrome1Jul 7, 2020
Curry-Hall syndrome1Oct 6, 2021
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Aug 4, 2020
Developmental and epileptic encephalopathy 6B1Sep 29, 2021
Developmental and epileptic encephalopathy, 291Oct 4, 2021
Developmental and epileptic encephalopathy, 311Mar 18, 2021
Developmental and epileptic encephalopathy, 421Jun 15, 2020
Developmental and epileptic encephalopathy, 641Mar 18, 2021
Developmental and epileptic encephalopathy, 71Aug 3, 2020
Developmental and epileptic encephalopathy, 731Sep 30, 2021
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Jul 29, 2020
Developmental and epileptic encephalopathy, 91Mar 4, 2021
Developmental cataract1Jun 25, 2021
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1Sep 1, 2020
Dilated cardiomyopathy 1C1Sep 30, 2021
Dilated cardiomyopathy 1E1Oct 7, 2021
Dilated cardiomyopathy 1G1Sep 30, 2021
Ehlers-Danlos syndrome due to tenascin-X deficiency1Mar 30, 2021
Eichsfeld type congenital muscular dystrophy1Mar 26, 2021
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Apr 22, 2022
Epilepsy, idiopathic generalized, susceptibility to, 91Oct 7, 2021
Epilepsy, progressive myoclonic, 121Oct 7, 2021
Exostoses, multiple, type 11Jul 31, 2019
Exostoses, multiple, type 21Mar 25, 2021
FGFR3-related disorder1Aug 3, 2020
Familial X-linked hypophosphatemic vitamin D refractory rickets1Sep 1, 2020
Familial porphyria cutanea tarda1Sep 30, 2021
Generalized epilepsy with febrile seizures plus1Mar 26, 2021
Generalized hypotonia1Jul 1, 2019
Glycogen storage disease, type II2Oct 7, 2021
Glycosylphosphatidylinositol biosynthesis defect 211Oct 7, 2021
Harel-Yoon syndrome1Sep 30, 2021
Hereditary sensory and autonomic neuropathy type 61Oct 6, 2021
Hereditary spastic paraplegia 281Oct 6, 2021
Hereditary spastic paraplegia 311Oct 6, 2021
Hereditary spastic paraplegia 451Mar 25, 2021
Hyperammonemia, type III1Sep 30, 2021
Hypertrophic cardiomyopathy 11Sep 29, 2021
Hypertrophic cardiomyopathy 91Sep 30, 2021
Hypogonadotropic hypogonadism 3 with or without anosmia1Oct 4, 2021
Hypohidrotic ectodermal dysplasia1Feb 8, 2019
Hypoparathyroidism-retardation-dysmorphism syndrome1Oct 4, 2021
Hypotonia, ataxia, and delayed development syndrome1Oct 11, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 25Oct 7, 2021
Immunodeficiency, common variable, 21Mar 30, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 41Mar 4, 2021
Intellectual developmental disorder 60 with seizures1Oct 4, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Sep 30, 2021
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Sep 30, 2021
Intellectual developmental disorder with seizures and language delay1Oct 7, 2021
Intellectual developmental disorder, autosomal recessive 721Sep 30, 2021
Intellectual disability, X-linked syndromic, Turner type1Sep 30, 2021
Intellectual disability, X-linked, syndromic, Bain type1Nov 19, 2020
Intellectual disability, autosomal dominant 431Oct 11, 2021
Intellectual disability, autosomal dominant 451Oct 11, 2021
Intellectual disability, autosomal dominant 61Nov 17, 2020
Intellectual disability, autosomal recessive 131Sep 1, 2020
Intellectual disability, autosomal recessive 471Oct 4, 2021
Intellectual disability, autosomal recessive 51Oct 4, 2021
Intellectual disability, autosomal recessive 501Oct 4, 2021
Intellectual disability, autosomal recessive 601Oct 4, 2021
Intellectual disability, autosomal recessive 611Sep 30, 2021
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Sep 30, 2021
Joubert syndrome 32Sep 1, 2020
Kabuki syndrome 12Mar 29, 2021
Kabuki syndrome 21Nov 19, 2020
Kleefstra syndrome 11Sep 1, 2020
Kleefstra syndrome 21Oct 4, 2021
Koolen-de Vries syndrome1Oct 11, 2021
L-2-hydroxyglutaric aciduria2Oct 8, 2021
Larsen syndrome1Mar 25, 2021
Leber congenital amaurosis 131Nov 19, 2020
Leigh syndrome1Mar 4, 2021
Leukodystrophy and acquired microcephaly with or without dystonia;2Oct 11, 2021
Liang-Wang syndrome1Oct 11, 2021
Limb dystonia1Jul 1, 2019
Linear skin defects with multiple congenital anomalies 32Oct 7, 2021
Lissencephaly 9 with complex brainstem malformation1Oct 11, 2021
Long QT syndrome 91Oct 6, 2021
MEGF10-Related Myopathy1Sep 30, 2021
MT-TK-related mitochondrial disorder1Oct 11, 2021
Merosin deficient congenital muscular dystrophy4Jun 25, 2021
Methylmalonic acidemia with homocystinuria, type cblJ1Oct 5, 2021
Microcephaly 20, primary, autosomal recessive1Oct 11, 2021
Microcephaly and chorioretinopathy 31Oct 4, 2021
Mitochondrial complex 1 deficiency, nuclear type 53Oct 7, 2021
Muscular dystrophy, limb-girdle, autosomal recessive 231Nov 19, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81Oct 11, 2021
Myasthenic syndrome, congenital, 24, presynaptic1Sep 30, 2021
Myopathy with abnormal lipid metabolism1Oct 8, 2021
Nemaline myopathy 22Oct 5, 2021
Nemaline myopathy 41Aug 31, 2020
Netherton syndrome1Oct 7, 2021
Neurodegeneration with brain iron accumulation 41Oct 4, 2021
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Apr 21, 2020
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities1Oct 11, 2021
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Mar 18, 2021
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Sep 30, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Nov 23, 2020
Neurodevelopmental disorder with or without seizures and gait abnormalities2Oct 11, 2021
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Mar 22, 2021
Neuronopathy, distal hereditary motor, type 5B1Oct 6, 2021
Nicolaides-Baraitser syndrome1Mar 23, 2021
Niemann-Pick disease, type C11Jul 13, 2020
Nizon-Isidor syndrome1Oct 4, 2021
Normophosphatemic familial tumoral calcinosis1Oct 6, 2021
Osteochondritis dissecans1Oct 4, 2021
Osteogenesis imperfecta type 121Mar 23, 2021
Osteogenesis imperfecta type 141Oct 8, 2021
Osteogenesis imperfecta type I1Mar 17, 2021
Osteoporosis with pseudoglioma1Oct 8, 2021
PTEN-related disorder1Nov 17, 2020
Periventricular nodular heterotopia 61Oct 4, 2021
Periventricular nodular heterotopia 91Mar 18, 2021
Pitt-Hopkins-like syndrome 21Mar 25, 2021
Polycystic kidney disease 21Mar 23, 2021
Polycystic kidney disease, adult type1Mar 4, 2021
Pontocerebellar hypoplasia type 31Oct 7, 2021
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal1Sep 30, 2021
Premature ovarian failure 82Apr 21, 2020
Primary ciliary dyskinesia 261Oct 5, 2021
Progressive pseudorheumatoid dysplasia1Apr 21, 2020
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1Sep 30, 2021
Rahman syndrome1Mar 4, 2021
Retinitis pigmentosa 31Mar 30, 2021
Retinitis pigmentosa 661Apr 21, 2020
Ritscher-Schinzel syndrome 11Oct 11, 2021
SIN3A-related intellectual disability syndrome due to a point mutation1Oct 4, 2021
SNAP25-related early-onset developmental and epileptic encephalopathy1Sep 30, 2021
STT3A-CDG1Oct 4, 2021
Schuurs-Hoeijmakers syndrome1Nov 17, 2020
Seizures, benign familial neonatal, 11Aug 3, 2020
Severe combined immunodeficiency due to IKK2 deficiency1Oct 4, 2021
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Sep 30, 2021
Shprintzen-Goldberg syndrome1Sep 30, 2021
Spastic paraplegia, autosomal dominant1Sep 28, 2021
Spondylometaphyseal dysplasia - Sutcliffe type1Oct 8, 2021
Syndromic X-linked intellectual disability Claes-Jensen type1Apr 21, 2020
Teebi hypertelorism syndrome1Oct 6, 2021
Telangiectasia, hereditary hemorrhagic, type 11Jun 11, 2020
Transcobalamin II deficiency1Apr 21, 2020
VACTERL association, X-linked, with or without hydrocephalus1Oct 5, 2021
Wolfram syndrome 12Sep 28, 2021
X-linked cone-rod dystrophy 11Mar 30, 2021
X-linked intellectual disability Cabezas type1Oct 4, 2021
ZTTK syndrome1Oct 4, 2021
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