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Consultorio y Laboratorio de Neurogenética (Hospital JM Ramos Mejia)

General information

Consultorio y Laboratorio de Neurogenética
Hospital JM Ramos Mejia
Urquiza 609
Ciudad Autonoma de Buenos Aires
Buenos Aires
Argentina - C1221ADC
http://www.neurogenetica.info/
Organization ID: 506631

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 68

Gene

GeneSubmissionsLast Updated
ABCD11Nov 30, 2018
ATL11Oct 20, 2020
ATM4Oct 22, 2020
C11orf651Oct 20, 2020
C19orf121Oct 20, 2020
CACNA1A1Oct 20, 2020
CAMTA11Oct 20, 2020
CC2D2A1Oct 30, 2020
CHD81Oct 20, 2020
COL4A11Oct 20, 2020
CSF1R1Oct 20, 2020
DDHD22Oct 26, 2020
DMD2Oct 20, 2020
EIF2B52Nov 30, 2018
FOXG11Oct 20, 2020
GABRA11Oct 20, 2020
GATA61Sep 11, 2020
GFAP1Nov 20, 2018
GJC22Oct 20, 2020
HEPACAM1Nov 20, 2018
HNRNPU1Oct 20, 2020
IGHMBP22Oct 20, 2020
ITPR11Oct 20, 2020
JMJD81Oct 20, 2020
KCNQ21Oct 20, 2020
KMT2D1Oct 20, 2020
L1CAM1Oct 20, 2020
LOC1027240581Oct 20, 2020
LOC1268065901Oct 20, 2020
LOC1300609941Nov 20, 2018
MFSD81Nov 2, 2020
NEB2Oct 22, 2020
OPA12Oct 20, 2020
POLR3A1Nov 20, 2018
PTEN1Nov 2, 2020
RHEB1Jan 27, 2023
RIF11Oct 22, 2020
RNASEH2B1Oct 20, 2020
RNASEH2C2Nov 2, 2020
SACS4Oct 20, 2020
SCN11A1Oct 20, 2020
SCN1A1Oct 20, 2020
SCN2A2Oct 20, 2020
SETX3Sep 15, 2020
SPAST1Oct 20, 2020
SPG112Sep 15, 2020
SPTBN22Nov 2, 2020
STUB11Oct 20, 2020
STXBP11Oct 26, 2020
SYNE14Oct 26, 2020
TSC11Oct 20, 2020
WDR451Oct 20, 2020

Condition

NameSubmissionsLast Updated
Adrenoleukodystrophy1Nov 30, 2018
Aicardi-Goutieres syndrome 21Oct 20, 2020
Aicardi-Goutieres syndrome 32Nov 2, 2020
Alexander disease1Nov 20, 2018
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia3Sep 15, 2020
Ataxia-telangiectasia syndrome4Oct 22, 2020
Autosomal dominant optic atrophy classic form1Sep 11, 2020
Autosomal recessive ataxia, Beauce type4Oct 26, 2020
Autosomal recessive distal spinal muscular atrophy 12Oct 20, 2020
Brain small vessel disease 1 with or without ocular anomalies1Oct 20, 2020
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Oct 20, 2020
Charlevoix-Saguenay spastic ataxia4Oct 20, 2020
Developmental and epileptic encephalopathy, 112Oct 20, 2020
Developmental and epileptic encephalopathy, 191Oct 20, 2020
Developmental and epileptic encephalopathy, 41Oct 26, 2020
Developmental and epileptic encephalopathy, 541Oct 20, 2020
Developmental and epileptic encephalopathy, 71Oct 20, 2020
Duchenne muscular dystrophy2Oct 20, 2020
Episodic ataxia type 21Oct 20, 2020
Hemimegalencephaly1Jan 27, 2023
Hereditary diffuse leukoencephalopathy with spheroids1Oct 20, 2020
Hereditary sensory and autonomic neuropathy type 71Oct 20, 2020
Hereditary spastic paraplegia 112Sep 15, 2020
Hereditary spastic paraplegia 3A1Oct 20, 2020
Hereditary spastic paraplegia 41Oct 20, 2020
Hereditary spastic paraplegia 542Oct 26, 2020
Hypomyelinating leukodystrophy 22Oct 20, 2020
Hypomyelinating leukodystrophy 41Nov 20, 2018
Intellectual developmental disorder with autism and macrocephaly1Oct 20, 2020
Joubert syndrome 91Oct 30, 2020
Kabuki syndrome 11Oct 20, 2020
Macrocephaly-autism syndrome1Nov 2, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 11Nov 20, 2018
Nemaline myopathy 22Oct 22, 2020
Neurodegeneration with brain iron accumulation 41Oct 20, 2020
Neurodegeneration with brain iron accumulation 51Oct 20, 2020
Neuronal ceroid lipofuscinosis 71Nov 2, 2020
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Oct 20, 2020
Rett syndrome, congenital variant1Oct 20, 2020
Severe myoclonic epilepsy in infancy1Oct 20, 2020
Spinocerebellar ataxia 481Oct 20, 2020
Spinocerebellar ataxia type 291Oct 20, 2020
Spinocerebellar ataxia type 52Nov 2, 2020
Tetralogy of Fallot1Sep 11, 2020
Tuberous sclerosis 11Oct 20, 2020
Vanishing white matter disease2Nov 30, 2018
X-linked hydrocephalus syndrome1Oct 20, 2020