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Service de Génétique Médicale (Centre Hospitalier Universitaire de Nice-Université Côte d'Azur), GenMed

General information

Service de Génétique Médicale, GenMed
Centre Hospitalier Universitaire de Nice-Université Côte d'Azur
Nice
France
https://www.chu-nice.fr/offre-de-soins/biologie-pathologie
Organization ID: 505920

Personnel

  • SAMIRA AIT-EL-MKADEM SAADI, Principal Investigator
    Phone: +33 492 039 353
    Email: saadi.s@chu-nice.fr

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 178

Gene

GeneSubmissionsLast Updated
AARS21Feb 4, 2025
ACAD93May 2, 2025
ACO21Feb 4, 2025
AFG3L21Feb 4, 2025
AGK1Feb 4, 2025
BCS1L3Feb 4, 2025
CACNA1A1Feb 4, 2025
CCDC301Feb 4, 2025
CFAP921Feb 4, 2025
COA61Feb 4, 2025
COQ21Feb 4, 2025
COQ61Feb 4, 2025
COQ8A2Mar 14, 2025
COX152Feb 4, 2025
DDX3X1Feb 4, 2025
DGUOK1Feb 4, 2025
EBF31Feb 4, 2025
ECHS14May 2, 2025
EIF2B32Feb 4, 2025
EIF2B41Feb 4, 2025
ELAC23Feb 4, 2025
EPCAM1Feb 4, 2025
FA2H1Mar 14, 2025
FARS22Feb 4, 2025
FASTKD21Feb 4, 2025
FBXL43Feb 4, 2025
FH1Feb 4, 2025
GAN1Feb 4, 2025
GATB1Feb 4, 2025
GCDH1Feb 4, 2025
GFM11Mar 14, 2025
GLB11Feb 4, 2025
GLE12Feb 4, 2025
GRIN11Feb 4, 2025
HCFC11Feb 4, 2025
HIBCH3Mar 14, 2025
HSPD11Feb 4, 2025
KARS11Mar 14, 2025
KCNN21Feb 4, 2025
KCNN2-AS11Feb 4, 2025
KIF1A1Feb 4, 2025
LAMA23Feb 4, 2025
LOC1019292702Feb 4, 2025
LOC1027240581Feb 4, 2025
LOC1268595652Feb 4, 2025
LOC1268596461May 2, 2025
LOC1268612421Mar 14, 2025
LOC1268632561Feb 4, 2025
LOC1299340961Feb 4, 2025
LOC1299968571Mar 14, 2025
LOC1300050231Mar 14, 2025
LOC1300591561Feb 4, 2025
LRPPRC1Mar 14, 2025
LYRM71Mar 14, 2025
MBD51May 31, 2024
MDH22Sep 14, 2016
MEGF102Feb 4, 2025
MILR12Feb 4, 2025
MPV172Feb 4, 2025
MT-ATP61May 6, 2020
MT-ND21May 5, 2020
MT-TF1May 2, 2020
MT-TI1May 2, 2020
MT-TL21May 6, 2020
MT-TN1May 2, 2020
MT-TP1May 6, 2020
MTFMT1Feb 4, 2025
MTO14Mar 14, 2025
NARS21Jun 2, 2022
NAXE1Feb 4, 2025
NCAPH21Mar 14, 2025
NDUFA103Feb 4, 2025
NDUFAF41Mar 14, 2025
NDUFAF62Mar 14, 2025
NDUFB111Mar 14, 2025
NDUFS11Mar 14, 2025
NDUFS31Mar 14, 2025
NDUFS41Feb 4, 2025
NDUFS61Mar 14, 2025
NDUFS82Feb 4, 2025
NDUFV12Mar 14, 2025
OPA11Feb 4, 2025
PARK71Feb 4, 2025
PARS21Feb 4, 2025
PC2Mar 14, 2025
PDHA13Mar 14, 2025
PDHB1Mar 14, 2025
PDSS11Feb 4, 2025
PDZD91Feb 4, 2025
PLA2G61Feb 4, 2025
PLCB41Feb 4, 2025
PNPLA62Feb 4, 2025
POLG7Feb 4, 2025
POLG22Feb 4, 2025
POLGARF2Feb 4, 2025
PPCS1Feb 4, 2025
PYCR22Feb 4, 2025
RARS23Feb 4, 2025
RMND11Feb 4, 2025
RRM2B2Feb 4, 2025
SACS1Feb 4, 2025
SCN1A1Feb 4, 2025
SCN2A2Feb 4, 2025
SCN8A2May 2, 2025
SCO21Mar 14, 2025
SERAC14Feb 4, 2025
SFXN41Feb 4, 2025
SLC19A31Mar 14, 2025
SLC25A42Feb 4, 2025
SPG72May 2, 2025
SUCLA21Feb 4, 2025
SUCLG11Feb 4, 2025
SURF14Feb 4, 2025
TAFAZZIN2Mar 14, 2025
TANGO21Feb 4, 2025
TARS21Mar 14, 2025
TK22Feb 4, 2025
TMEM126B1Feb 4, 2025
TMEM701Feb 4, 2025
TRMU2May 2, 2025
TSFM1Mar 14, 2025
TWNK6May 2, 2025
UQCRC21Feb 4, 2025
VARS22May 2, 2025
VPS13D1Feb 4, 2025
WDR451Feb 4, 2025
WFS11Feb 4, 2025
XPNPEP31Feb 4, 2025
YARS21Mar 14, 2025
ZC4H21Feb 4, 2025

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 22Mar 14, 2025
3-hydroxyisobutyryl-CoA hydrolase deficiency3Mar 14, 2025
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome4Feb 4, 2025
Abortive cerebellar ataxia1Feb 4, 2025
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2May 2, 2025
Acyl-CoA dehydrogenase 9 deficiency3May 2, 2025
Auriculocondylar syndrome 2B1Feb 4, 2025
Autosomal recessive ataxia due to ubiquinone deficiency2Mar 14, 2025
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1Feb 4, 2025
Autosomal recessive early-onset Parkinson disease 71Feb 4, 2025
Biotin-responsive basal ganglia disease1Mar 14, 2025
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11Mar 14, 2025
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22Feb 4, 2025
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41Feb 4, 2025
Cardiomyopathy, dilated, 2c1Feb 4, 2025
Charlevoix-Saguenay spastic ataxia1Feb 4, 2025
Coenzyme Q10 deficiency, primary, 11Feb 4, 2025
Combined oxidative phosphorylation defect type 111Feb 4, 2025
Combined oxidative phosphorylation defect type 142Feb 4, 2025
Combined oxidative phosphorylation defect type 173Feb 4, 2025
Combined oxidative phosphorylation defect type 202May 2, 2025
Combined oxidative phosphorylation defect type 211Mar 14, 2025
Combined oxidative phosphorylation deficiency 411Feb 4, 2025
Combined oxidative phosphorylation deficiency 441Feb 4, 2025
Congenital diarrhea 5 with tufting enteropathy1Feb 4, 2025
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1Mar 14, 2025
Congenital myopathy 10b, mild variant2Feb 4, 2025
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1Feb 4, 2025
Developmental and epileptic encephalopathy 6B1Feb 4, 2025
Developmental and epileptic encephalopathy, 112Feb 4, 2025
Developmental and epileptic encephalopathy, 132May 2, 2025
Developmental and epileptic encephalopathy, 421Feb 4, 2025
Developmental and epileptic encephalopathy, 751Feb 4, 2025
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11Feb 4, 2025
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1Feb 4, 2025
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31Mar 14, 2025
Fumarase deficiency1Feb 4, 2025
GM1 gangliosidosis type 21Feb 4, 2025
GRACILE syndrome1Feb 4, 2025
Giant axonal neuropathy 11Feb 4, 2025
Glutaric aciduria, type 11Feb 4, 2025
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome1Feb 4, 2025
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11Mar 14, 2025
Hereditary spastic paraplegia 301Feb 4, 2025
Hereditary spastic paraplegia 351Mar 14, 2025
Hereditary spastic paraplegia 392Feb 4, 2025
Hereditary spastic paraplegia 72May 2, 2025
Hypotonia, ataxia, and delayed development syndrome1Feb 4, 2025
Infantile cerebellar-retinal degeneration1Feb 4, 2025
Infantile encephalopathy2Sep 14, 2016
Infantile neuroaxonal dystrophy1Feb 4, 2025
Infantile onset spinocerebellar ataxia1Feb 4, 2025
Intellectual disability, X-linked 1021Feb 4, 2025
Intellectual disability, autosomal dominant 11May 31, 2024
Lethal arthrogryposis-anterior horn cell disease syndrome2Feb 4, 2025
Leukodystrophy, hypomyelinating, 102Feb 4, 2025
Leukodystrophy, hypomyelinating, 41Feb 4, 2025
Leukoencephalopathy with vanishing white matter 32Feb 4, 2025
Leukoencephalopathy with vanishing white matter 41Feb 4, 2025
Leukoencephalopathy, progressive, infantile-onset, with or without deafness1Mar 14, 2025
Leukoencephalopathy, progressive, with ovarian failure1Feb 4, 2025
Methylmalonic acidemia with homocystinuria, type cblX1Feb 4, 2025
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive2Feb 4, 2025
Mitochondrial DNA depletion syndrome 133Feb 4, 2025
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1Feb 4, 2025
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2Feb 4, 2025
Mitochondrial DNA depletion syndrome 8a2Feb 4, 2025
Mitochondrial DNA depletion syndrome 91Feb 4, 2025
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Feb 4, 2025
Mitochondrial DNA depletion syndrome, myopathic form2Feb 4, 2025
Mitochondrial complex I deficiency, nuclear type 11Feb 4, 2025
Mitochondrial complex I deficiency, nuclear type 151Mar 14, 2025
Mitochondrial complex I deficiency, nuclear type 172Mar 14, 2025
Mitochondrial complex I deficiency, nuclear type 22Feb 4, 2025
Mitochondrial complex I deficiency, nuclear type 223Feb 4, 2025
Mitochondrial complex I deficiency, nuclear type 291Feb 4, 2025
Mitochondrial complex I deficiency, nuclear type 301Mar 14, 2025
Mitochondrial complex I deficiency, nuclear type 42Mar 14, 2025
Mitochondrial complex I deficiency, nuclear type 51Mar 14, 2025
Mitochondrial complex I deficiency, nuclear type 81Mar 14, 2025
Mitochondrial complex I deficiency, nuclear type 91Mar 14, 2025
Mitochondrial complex III deficiency nuclear type 12Feb 4, 2025
Mitochondrial complex III deficiency nuclear type 51Feb 4, 2025
Mitochondrial complex III deficiency nuclear type 81Mar 14, 2025
Mitochondrial complex IV deficiency, nuclear type 14Feb 4, 2025
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 21Feb 4, 2025
Mitochondrial disease8Jun 2, 2022
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency4Mar 14, 2025
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency4May 2, 2025
Muscular dystrophy, limb-girdle, autosomal recessive 233Feb 4, 2025
Myopathy, lactic acidosis, and sideroblastic anemia 21Mar 14, 2025
Nephronophthisis-like nephropathy 11Feb 4, 2025
Neurodegeneration with brain iron accumulation 51Feb 4, 2025
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Feb 4, 2025
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities1Feb 4, 2025
Pontocerebellar hypoplasia type 63Feb 4, 2025
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 35May 2, 2025
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 42Feb 4, 2025
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11Feb 4, 2025
Progressive sclerosing poliodystrophy2Feb 4, 2025
Pyruvate carboxylase deficiency2Mar 14, 2025
Pyruvate dehydrogenase E1-alpha deficiency3Mar 14, 2025
Pyruvate dehydrogenase E1-beta deficiency1Mar 14, 2025
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Feb 4, 2025
Sengers syndrome1Feb 4, 2025
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis4Feb 4, 2025
Spinocerebellar ataxia type 281Feb 4, 2025
Waardenburg syndrome 2F1Feb 4, 2025
Wieacker-Wolff syndrome1Feb 4, 2025
Wolfram syndrome 11Feb 4, 2025