Laboratory of Medical Genetics (National & Kapodistrian University of Athens), LMG-NKUA

General information

Laboratory of Medical Genetics, LMG-NKUA
National & Kapodistrian University of Athens
Thivon and Levadeias
Athens
Attiki
Greece - 11527
http://www.iatrikigenetiki.med.uoa.gr/
Organization ID: 506664

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 178

Gene

GeneSubmissionsLast Updated
ACTB1Mar 6, 2019
ACVRL11Mar 6, 2019
AGXT2Mar 6, 2019
ANO51Mar 6, 2019
CCN61Mar 6, 2019
CDKL51Mar 27, 2020
CHD71Mar 6, 2019
CIC1Mar 6, 2019
COL11A11Mar 6, 2019
COL1A11Mar 6, 2019
COL2A11Mar 6, 2019
COL4A11Mar 6, 2019
COL4A51Mar 6, 2019
COL5A11Mar 6, 2019
COL7A12Mar 6, 2019
DDX591Mar 6, 2019
DICER11Mar 27, 2020
DUSP291Mar 6, 2019
FBN11Mar 6, 2019
FERMT11Mar 6, 2019
FLCN1Mar 6, 2019
FOXG11Mar 27, 2020
FREM11Mar 6, 2019
GFAP1Mar 6, 2019
GJB22Mar 6, 2019
HNRNPA11Mar 6, 2019
IFIH11Mar 6, 2019
ITCH1Mar 27, 2020
ITPR11Mar 6, 2019
KAT6B1Mar 6, 2019
KCNJ21Mar 6, 2019
KCNQ23Mar 27, 2020
KCNT12Mar 27, 2020
KDM6A1Mar 6, 2019
KLHL241Mar 6, 2019
KMT2D2Mar 6, 2019
KRAS1Mar 6, 2019
LAMA21Mar 6, 2019
LMNA1Mar 6, 2019
LOC1027240585Mar 27, 2020
MAGEL21Mar 6, 2019
MECP22Mar 6, 2019
MED121Mar 6, 2019
MYH141Mar 6, 2019
NAA101Mar 6, 2019
NALCN1Mar 6, 2019
NALCN-AS11Mar 6, 2019
NF192Apr 1, 2021
NF21Apr 1, 2021
NSD13Mar 6, 2019
PAX61Mar 6, 2019
PCDH191Mar 27, 2020
PDHA11Mar 6, 2019
PKHD12Mar 6, 2019
RNF2131Mar 6, 2019
RNF213-AS11Mar 6, 2019
RPS261Mar 27, 2020
RPS6KA31Mar 6, 2019
RYR12Mar 6, 2019
SBDS1Mar 27, 2020
SCN1A12Mar 27, 2020
SOS11Mar 6, 2019
STXBP11Mar 6, 2019
TGFB31Mar 6, 2019
TNC1Mar 6, 2019
TSC11Mar 6, 2019
TYR2Mar 6, 2019

Condition

NameSubmissionsLast Updated
Aicardi-Goutieres syndrome 71Mar 6, 2019
Alexander Disease1Mar 6, 2019
Alport syndrome 1, X-linked recessive1Mar 6, 2019
Andersen Tawil syndrome1Mar 6, 2019
Aniridia 11Mar 6, 2019
Arrhythmogenic right ventricular dysplasia, familial 11Mar 6, 2019
Autoimmune disease, syndromic multisystem1Mar 27, 2020
Autosomal recessive polycystic kidney disease2Mar 6, 2019
Baraitser-Winter syndrome 11Mar 6, 2019
Benign familial neonatal seizures 11Mar 27, 2020
Blepharophimosis - intellectual disability syndrome, SBBYS type1Mar 6, 2019
Brain small vessel disease with hemorrhage1Mar 6, 2019
CHARGE association1Mar 6, 2019
Coffin-Lowry syndrome1Mar 6, 2019
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Mar 6, 2019
Congenital muscular dystrophy, LMNA-related1Mar 6, 2019
Deafness, autosomal dominant 41Mar 6, 2019
Deafness, autosomal dominant 561Mar 6, 2019
Deafness, autosomal recessive 1A2Mar 6, 2019
Diamond-Blackfan anemia 101Mar 27, 2020
Early infantile epileptic encephalopathy 142Mar 27, 2020
Early infantile epileptic encephalopathy 21Mar 27, 2020
Early infantile epileptic encephalopathy 41Mar 6, 2019
Early infantile epileptic encephalopathy 72Mar 27, 2020
Early infantile epileptic encephalopathy 91Mar 27, 2020
Ehlers-Danlos syndrome, classic type1Mar 6, 2019
Epidermolysis bullosa simplex, generalized, with scarring and hair loss1Mar 6, 2019
Generalized epilepsy with febrile seizures plus, type 26Mar 27, 2020
Gillespie syndrome1Mar 6, 2019
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors1Mar 27, 2020
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 31Mar 6, 2019
Intellectual disability, autosomal dominant 451Mar 6, 2019
Kabuki syndrome 12Mar 6, 2019
Kabuki syndrome 21Mar 6, 2019
Kindler syndrome1Mar 6, 2019
Limb-girdle muscular dystrophy, type 2L1Mar 6, 2019
Malignant hyperthermia, susceptibility to, 12Mar 6, 2019
Marfan syndrome1Mar 6, 2019
Moyamoya disease 21Mar 6, 2019
Multiple fibrofolliculomas1Mar 6, 2019
Muscular dystrophy, limb-girdle, autosomal recessive 231Mar 6, 2019
N-terminal acetyltransferase deficiency1Mar 6, 2019
Neurofibromatosis, type 193Apr 1, 2021
Noonan syndrome 31Mar 6, 2019
Noonan syndrome 41Mar 6, 2019
Oculocutaneous albinism type 1B1Mar 6, 2019
Orofaciodigital syndrome V1Mar 6, 2019
Osteogenesis imperfecta with normal sclerae, dominant form1Mar 6, 2019
Primary hyperoxaluria, type I2Mar 6, 2019
Progressive pseudorheumatoid dysplasia1Mar 6, 2019
Pyruvate dehydrogenase E1-alpha deficiency1Mar 6, 2019
Recessive dystrophic epidermolysis bullosa2Mar 6, 2019
Rett syndrome2Mar 6, 2019
Rett syndrome, congenital variant1Mar 27, 2020
Schaaf-Yang syndrome1Mar 6, 2019
Severe myoclonic epilepsy in infancy6Mar 27, 2020
Shwachman-Diamond syndrome 11Mar 27, 2020
Sotos syndrome 13Mar 6, 2019
Stickler syndrome type 21Mar 6, 2019
Stickler syndrome, type I, nonsyndromic ocular1Mar 6, 2019
Telangiectasia, hereditary hemorrhagic, type 21Mar 6, 2019
Trigonocephaly 21Mar 6, 2019
Tuberous sclerosis 11Mar 6, 2019
Tyrosinase-negative oculocutaneous albinism1Mar 6, 2019
X-linked mental retardation with marfanoid habitus syndrome1Mar 6, 2019
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