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: 82

Gene

GeneSubmissionsLast Updated
ABCA122Mar 22, 2021
AHI12Sep 1, 2020
AUTS21Mar 18, 2021
CACNA1A1Jun 15, 2020
CASTOR31Apr 21, 2020
CCN61Apr 21, 2020
CHRNA41Nov 17, 2020
COL1A12Mar 23, 2021
COL7A12Mar 4, 2021
CRYGA1Jun 25, 2021
CUL71Apr 21, 2020
DNM11Mar 18, 2021
EHMT11Sep 1, 2020
ENG1Jun 11, 2020
ERCC81Feb 1, 2019
EXT11Jul 31, 2019
EXT21Mar 25, 2021
FBN21Sep 1, 2020
FGFR31Aug 3, 2020
FLNB1Mar 25, 2021
GALT1Aug 4, 2020
GPHN1Nov 19, 2020
GRIN2B1Nov 17, 2020
H1-41Mar 4, 2021
HELLS1Mar 4, 2021
HNRNPH21Nov 19, 2020
IRF2BPL1Mar 22, 2021
KCNQ21Aug 3, 2020
KDM5C1Apr 21, 2020
KDM6A1Nov 19, 2020
KMT2D2Mar 29, 2021
LAMA24Jun 25, 2021
MANBA1Nov 18, 2020
MAP1B1Mar 18, 2021
MT-ND61Mar 4, 2021
NDUFB111Mar 30, 2021
NOD21Mar 24, 2020
NPC11Jul 13, 2020
NRXN11Mar 25, 2021
NT5C21Mar 25, 2021
PACS11Nov 17, 2020
PCDH191Mar 4, 2021
PHEX1Sep 1, 2020
PKD11Mar 4, 2021
PKD21Mar 23, 2021
POLR2A1Mar 18, 2021
PTEN1Nov 17, 2020
PURA1Jul 1, 2019
QARS11Sep 1, 2020
RBP31Apr 21, 2020
RDH121Nov 19, 2020
RERE1Nov 23, 2020
RHOBTB21Mar 18, 2021
RPGR1Mar 30, 2021
RPL36A-HNRNPH21Nov 19, 2020
SATB21Nov 19, 2020
SCN1A-AS11Mar 26, 2021
SCN9A1Mar 26, 2021
SELENON1Mar 26, 2021
SMARCA21Mar 23, 2021
SMC1A2Nov 19, 2020
SNHG311Mar 22, 2021
SP71Mar 23, 2021
STAG32Apr 21, 2020
TCN21Apr 21, 2020
TNFRSF13B1Mar 30, 2021
TNXB1Mar 30, 2021
TPK11Apr 21, 2020
TPM21Aug 31, 2020
TRAPPC91Sep 1, 2020
TRIP121Mar 3, 2021
UNC802Mar 24, 2020
VSX11Jul 7, 2020
WNT10A1Feb 8, 2019
ZMIZ11Apr 21, 2020

Condition

NameSubmissionsLast Updated
Apnea1Jul 1, 2019
Autoinflammatory syndrome1Mar 24, 2020
Autosomal recessive congenital ichthyosis 4A2Mar 22, 2021
Benign familial neonatal seizures 11Aug 3, 2020
Beta-D-mannosidosis1Nov 18, 2020
COL1A1-related osteogenesis imperfecta1Mar 23, 2021
COL7A1-related epidermolysis bullosa2Mar 4, 2021
Chromosome 2q32-q33 deletion syndrome1Nov 19, 2020
Clark-Baraitser syndrome1Mar 3, 2021
Cockayne syndrome type A2Feb 1, 2019
Common variable immunodeficiency 21Mar 30, 2021
Cone-rod dystrophy, X-linked 11Mar 30, 2021
Congenital cataract1Jun 25, 2021
Congenital contractural arachnodactyly1Sep 1, 2020
Congenital muscular hypertrophy-cerebral syndrome1Nov 19, 2020
Congenital myopathy with fiber type disproportion1Mar 26, 2021
Craniofacial anomalies and anterior segment dysgenesis syndrome1Jul 7, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Aug 4, 2020
Developmental and epileptic encephalopathy, 641Mar 18, 2021
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Jul 29, 2020
Distal arthrogryposis type 1A1Aug 31, 2020
Early infantile epileptic encephalopathy 71Aug 3, 2020
Early infantile epileptic encephalopathy 91Mar 4, 2021
Ehlers-Danlos syndrome due to tenascin-X deficiency1Mar 30, 2021
Eichsfeld type congenital muscular dystrophy1Mar 26, 2021
Epilepsy, nocturnal frontal lobe, type 11Nov 17, 2020
Epileptic encephalopathy, early infantile, 311Mar 18, 2021
Epileptic encephalopathy, early infantile, 421Jun 15, 2020
FGFR3-related disorder1Aug 3, 2020
Familial X-linked hypophosphatemic vitamin D refractory rickets1Sep 1, 2020
Generalized epilepsy with febrile seizures plus1Mar 26, 2021
Generalized hypotonia1Jul 1, 2019
Hereditary hemorrhagic telangiectasia type 11Jun 11, 2020
Hypohidrotic ectodermal dysplasia1Feb 8, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22Mar 24, 2020
Immunodeficiency-centromeric instability-facial anomalies syndrome 41Mar 4, 2021
Joubert syndrome 32Sep 1, 2020
Kabuki syndrome 12Mar 29, 2021
Kabuki syndrome 21Nov 19, 2020
Kleefstra syndrome 11Sep 1, 2020
Larsen syndrome1Mar 25, 2021
Leber congenital amaurosis 131Nov 19, 2020
Leigh syndrome1Mar 4, 2021
Limb dystonia1Jul 1, 2019
Linear skin defects with multiple congenital anomalies 31Mar 30, 2021
Mental retardation, X-linked, syndromic, Bain type1Nov 19, 2020
Mental retardation, autosomal dominant 261Mar 18, 2021
Mental retardation, autosomal dominant 61Nov 17, 2020
Mental retardation, autosomal recessive 131Sep 1, 2020
Mental retardation, syndromic, Claes-Jensen type, X-linked1Apr 21, 2020
Merosin deficient congenital muscular dystrophy4Jun 25, 2021
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1Sep 1, 2020
Multiple exostoses type 11Jul 31, 2019
Multiple exostoses type 21Mar 25, 2021
Muscular dystrophy, limb-girdle, autosomal recessive 231Nov 19, 2020
Nemaline myopathy 41Aug 31, 2020
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Apr 21, 2020
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Mar 18, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Nov 23, 2020
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Mar 22, 2021
Nicolaides-Baraitser syndrome1Mar 23, 2021
Niemann-Pick disease type C11Jul 13, 2020
Osteogenesis imperfecta type 121Mar 23, 2021
Osteogenesis imperfecta type I1Mar 17, 2021
PTEN-related disorder1Nov 17, 2020
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
Premature ovarian failure 82Apr 21, 2020
Progressive pseudorheumatoid dysplasia1Apr 21, 2020
Rahman syndrome1Mar 4, 2021
Retinitis pigmentosa 151Mar 30, 2021
Retinitis pigmentosa 661Apr 21, 2020
Schuurs-hoeijmakers syndrome1Nov 17, 2020
Spastic paraplegia 45, autosomal recessive1Mar 25, 2021
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)1Apr 21, 2020
Three M syndrome 11Apr 21, 2020
Transcolabamin II deficiency1Apr 21, 2020
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