Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University (Children's Medical Center, Pediatrics Center of Excellence,), MyelinClinic

General information

Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, MyelinClinic
Children's Medical Center, Pediatrics Center of Excellence,
Tehran
Iran

Organization ID: 507127

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 123

    Gene

    GeneSubmissionsLast Updated
    AARS12Jun 15, 2020
    ABCB61Jun 1, 2020
    ABCD15Jul 31, 2020
    ACOX11Sep 4, 2020
    ADPRS1Sep 1, 2020
    ARSA9Feb 9, 2021
    ASPA3May 10, 2020
    ATRIP1May 31, 2020
    ATRIP-TREX11May 31, 2020
    CHKB1Aug 29, 2019
    CHKB-CPT1B1Aug 29, 2019
    CILK11Apr 30, 2020
    CLN62Jun 1, 2020
    COQ41May 5, 2020
    CYC11May 5, 2020
    DCPS1Apr 24, 2020
    EARS21May 2, 2020
    ECHS11Oct 5, 2020
    EIF2B31May 2, 2020
    EIF2B41Dec 30, 2020
    EPG51May 3, 2020
    ERCC81May 2, 2020
    FBXL41Jun 1, 2020
    FKRP1Jun 1, 2020
    FUCA14Nov 12, 2020
    GALC6Oct 5, 2020
    GCDH1Sep 4, 2020
    GJC27Nov 2, 2020
    GLB11Jun 7, 2020
    GRIN2A2Oct 2, 2020
    GSEC1Apr 24, 2020
    HEXA3Nov 12, 2020
    HEXB2Nov 12, 2020
    HSD17B41Aug 28, 2020
    ISCA21May 3, 2020
    L2HGDH3Jun 22, 2020
    LAMA11Jun 1, 2020
    LAMA22Oct 5, 2020
    LIAS1Jun 1, 2020
    LYRM71May 4, 2020
    MCOLN11May 3, 2020
    MFSD81Aug 30, 2020
    MLC14Oct 2, 2020
    MMACHC1Jun 1, 2020
    MMUT1May 2, 2020
    MOCS21May 3, 2020
    NARS21May 4, 2020
    NDUFA91Jun 1, 2020
    NDUFB91Aug 3, 2021
    NDUFS12May 11, 2020
    NDUFS21Jul 6, 2020
    NDUFS41Oct 5, 2020
    NDUFS71Sep 11, 2019
    NDUFS81Jun 1, 2020
    NKX6-21Aug 7, 2019
    OCRL1Nov 12, 2020
    PDSS11Aug 3, 2021
    PEX102Jul 31, 2020
    PEX121Jun 1, 2020
    PEX131Apr 27, 2020
    PEX62Jun 15, 2020
    PLAA1Jun 26, 2020
    POLR1C1May 5, 2020
    POLR3A1May 11, 2020
    POLR3B1Apr 24, 2020
    PPT11Apr 26, 2020
    PTEN1May 5, 2020
    RARS22Aug 18, 2020
    RNASET21Aug 18, 2020
    SAMHD11Sep 1, 2020
    SDHAF11Sep 26, 2019
    SDHB1Jul 6, 2020
    SEPSECS1Jun 15, 2020
    SLC17A51Apr 24, 2020
    SLC19A31Jun 1, 2020
    SLC25A121Jun 1, 2020
    SMPD11Jun 1, 2020
    SPATA223May 10, 2020
    SUCLA21Aug 30, 2019
    SURF12Oct 5, 2020
    TBCK1Sep 4, 2020
    TRAK11Sep 1, 2020
    TREX11May 31, 2020

    Condition

    NameSubmissionsLast Updated
    Adrenoleukodystrophy5Jul 31, 2020
    Aicardi Goutieres syndrome 11May 31, 2020
    Aicardi Goutieres syndrome 51Sep 1, 2020
    Al-Raqad syndrome1Apr 24, 2020
    Bifunctional peroxisomal enzyme deficiency1Aug 28, 2020
    Biotin-responsive basal ganglia disease1Jun 1, 2020
    Charcot-Marie-Tooth disease, type 2N1Jun 1, 2020
    Cobalamin C disease1Jun 1, 2020
    Cockayne syndrome type A1May 2, 2020
    Coenzyme Q10 deficiency, primary, 21Aug 3, 2021
    Coenzyme Q10 deficiency, primary, 71May 5, 2020
    Combined oxidative phosphorylation deficiency 121May 2, 2020
    Combined oxidative phosphorylation deficiency 241May 4, 2020
    Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51Jun 1, 2020
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51Jun 1, 2020
    Cowden syndrome 11May 5, 2020
    Developmental and epileptic encephalopathy, 681Sep 1, 2020
    Epilepsy, focal, with speech disorder and with or without mental retardation2Oct 2, 2020
    Epilepsy, juvenile myoclonic, susceptibility to, 101Apr 30, 2020
    Epileptic encephalopathy, early infantile, 292Jun 15, 2020
    Fucosidosis4Nov 12, 2020
    Galactosylceramide beta-galactosidase deficiency6Oct 5, 2020
    Glutaric aciduria, type 11Sep 4, 2020
    Hypomyelinating leukodystrophy 71May 11, 2020
    Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1Apr 24, 2020
    Hypomyelination, global cerebral1Jun 1, 2020
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Sep 4, 2020
    Infantile GM1 gangliosidosis1Jun 7, 2020
    L-2-hydroxyglutaric aciduria3Jun 22, 2020
    Leigh syndrome1May 2, 2020
    Leukodystrophy, hypomyelinating, 111May 5, 2020
    Leukodystrophy, hypomyelinating, 27Nov 2, 2020
    Leukoencephalopathy with vanishing white matter2Dec 30, 2020
    Leukoencephalopathy, cystic, without megalencephaly1Aug 18, 2020
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Jun 1, 2020
    Lowe syndrome1Nov 12, 2020
    Megaconial type congenital muscular dystrophy1Aug 29, 2019
    Megalencephalic leukoencephalopathy with subcortical cysts 14Oct 2, 2020
    Merosin deficient congenital muscular dystrophy2Oct 5, 2020
    Metachromatic leukodystrophy9Feb 9, 2021
    Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1May 2, 2020
    Microphthalmia, isolated, with coloboma 71Jun 1, 2020
    Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Jun 1, 2020
    Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1Aug 30, 2019
    Mitochondrial complex 1 deficiency, nuclear type 21Jun 1, 2020
    Mitochondrial complex 1 deficiency, nuclear type 241Aug 3, 2021
    Mitochondrial complex 1 deficiency, nuclear type 261Jun 1, 2020
    Mitochondrial complex 1 deficiency, nuclear type 31Sep 11, 2019
    Mitochondrial complex 1 deficiency, nuclear type 52May 11, 2020
    Mitochondrial complex 1 deficiency, nuclear type 61Jul 6, 2020
    Mitochondrial complex I deficiency, nuclear type 11Oct 5, 2020
    Mitochondrial complex II deficiency, nuclear type 12Jul 6, 2020
    Mitochondrial complex III deficiency, nuclear type 61May 5, 2020
    Mitochondrial complex III deficiency, nuclear type 81May 4, 2020
    Mitochondrial complex IV deficiency1Oct 5, 2020
    Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1Oct 5, 2020
    Molybdenum cofactor deficiency, complementation group B1May 3, 2020
    Mucolipidosis type IV1May 3, 2020
    Multiple mitochondrial dysfunctions syndrome 41May 3, 2020
    Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1Sep 1, 2020
    Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Jun 26, 2020
    Neuronal ceroid lipofuscinosis 11Apr 26, 2020
    Neuronal ceroid lipofuscinosis 62Jun 1, 2020
    Neuronal ceroid lipofuscinosis 71Aug 30, 2020
    Niemann-Pick disease, type A1Jun 1, 2020
    Niemann-Pick disease, type B1Jun 1, 2020
    Peroxisomal acyl-CoA oxidase deficiency1Sep 4, 2020
    Peroxisome biogenesis disorder 11A1Apr 27, 2020
    Peroxisome biogenesis disorder 3A1Jun 1, 2020
    Peroxisome biogenesis disorder 4B1Jun 1, 2020
    Peroxisome biogenesis disorder 4a (zellweger)2Jun 15, 2020
    Peroxisome biogenesis disorder 6A1Jul 31, 2020
    Peroxisome biogenesis disorder 6B1May 5, 2020
    Pontocerebellar hypoplasia type 2D1Jun 15, 2020
    Pontocerebellar hypoplasia type 62Aug 18, 2020
    Poretti-Boltshauser syndrome1Jun 1, 2020
    Pyruvate dehydrogenase lipoic acid synthetase deficiency1Jun 1, 2020
    Sandhoff disease2Nov 12, 2020
    Sialic acid storage disease, severe infantile type1Apr 24, 2020
    Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1Aug 7, 2019
    Spongy degeneration of central nervous system3May 10, 2020
    Tay-Sachs disease3Nov 12, 2020
    Vici syndrome1May 3, 2020
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