Laboratory of Inherited Metabolic Diseases (Research centre for medical genetics), LIMD

General information

Laboratory of Inherited Metabolic Diseases, LIMD
Research centre for medical genetics
Moskvoreche, 1
Moscow
Russia - 115552
http://med-gen.ru
Organization ID: 507039

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 186

Gene

GeneSubmissionsLast Updated
ALG131Feb 14, 2020
APOA51Dec 17, 2020
ARHGEF91Feb 14, 2020
ARX1Feb 14, 2020
CACNA1A1Feb 14, 2020
CAPN31Apr 18, 2020
CDKL517Feb 14, 2020
CNPY32Feb 14, 2020
CNPY3-GNMT2Feb 14, 2020
DYSF2Apr 18, 2020
FBXL41Jul 19, 2019
GAA1Aug 30, 2021
GABRA11Feb 14, 2020
GABRB31Feb 14, 2020
GAREM21Apr 18, 2020
GNAO11Feb 14, 2020
HADHA1Apr 18, 2020
HGD8Apr 18, 2020
IDS44Dec 15, 2020
KCNB12Feb 14, 2020
KCNQ22Feb 14, 2020
KCNT11Feb 14, 2020
LDLR7Mar 6, 2020
LIPA1Mar 6, 2020
LOC1027240588Feb 14, 2020
LOC10605010219Dec 15, 2020
LOC1148034701Feb 14, 2020
NPC11Jan 9, 2021
PCCA11Feb 19, 2021
PCCB5Feb 19, 2021
PCDH1910Feb 14, 2020
PHKA11Apr 18, 2020
PLIN11Dec 17, 2020
POLG10Jul 19, 2019
RS11Feb 14, 2020
SCN1A12Feb 14, 2020
SCN2A9Feb 14, 2020
SCN8A6Feb 14, 2020
SCO21Jul 19, 2019
SGCA3Apr 18, 2020
SGCG1Apr 18, 2020
STXBP14Feb 14, 2020
TK24Jul 19, 2019
TWNK9Jul 19, 2019
TYMP1Jul 19, 2019

Condition

NameSubmissionsLast Updated
Alkaptonuria8Apr 18, 2020
Alpers-like hepatocerebral syndrome1Jul 19, 2019
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 12Jul 19, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2D3Apr 18, 2020
Developmental and epileptic encephalopathy, 602Feb 14, 2020
Early infantile epileptic encephalopathy 119Feb 14, 2020
Early infantile epileptic encephalopathy 136Feb 14, 2020
Early infantile epileptic encephalopathy 141Feb 14, 2020
Early infantile epileptic encephalopathy 171Feb 14, 2020
Early infantile epileptic encephalopathy 217Feb 14, 2020
Early infantile epileptic encephalopathy 44Feb 14, 2020
Early infantile epileptic encephalopathy 72Feb 14, 2020
Early infantile epileptic encephalopathy 81Feb 14, 2020
Early infantile epileptic encephalopathy 910Feb 14, 2020
Epileptic encephalopathy, early infantile, 11Feb 14, 2020
Epileptic encephalopathy, early infantile, 191Feb 14, 2020
Epileptic encephalopathy, early infantile, 262Feb 14, 2020
Epileptic encephalopathy, early infantile, 361Feb 14, 2020
Epileptic encephalopathy, early infantile, 421Feb 14, 2020
Epileptic encephalopathy, early infantile, 431Feb 14, 2020
Familial hypercholesterolemia 17Mar 6, 2020
Familial partial lipodystrophy 41Dec 17, 2020
Familial type 5 hyperlipoproteinemia1Dec 17, 2020
Glycogen storage disease IXd1Apr 18, 2020
Glycogen storage disease, type II1Aug 30, 2021
Infantile onset spinocerebellar ataxia4Jul 19, 2019
Limb-girdle muscular dystrophy, type 2A1Apr 18, 2020
Lysosomal acid lipase deficiency1Mar 6, 2020
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1Jul 19, 2019
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Jul 19, 2019
Mitochondrial DNA depletion syndrome 24Jul 19, 2019
Mitochondrial trifunctional protein deficiency1Apr 18, 2020
Mucopolysaccharidosis, MPS-II44Dec 15, 2020
Niemann-Pick disease type C11Jan 9, 2021
Perrault syndrome 51Jul 19, 2019
Progressive sclerosing poliodystrophy5Jul 19, 2019
Propionic acidemia16Feb 19, 2021
Qualitative or quantitative defects of dysferlin2Apr 18, 2020
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Jul 19, 2019
Severe autosomal recessive muscular dystrophy of childhood - North African type1Apr 18, 2020
Severe myoclonic epilepsy in infancy12Feb 14, 2020
mitochondrial hepatopathy4Jul 19, 2019
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