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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: 394

Gene

GeneSubmissionsLast Updated
ADAMTSL22Nov 16, 2022
ALG131Feb 14, 2020
APOA11Feb 15, 2022
APOA51Dec 17, 2020
APOB2Feb 15, 2022
APOE1Feb 15, 2022
ARHGEF91Feb 14, 2020
ARSB4Jan 14, 2024
ARSL2Nov 16, 2022
ARX1Feb 14, 2020
BGN1Nov 16, 2022
BMPR1B1Apr 21, 2022
CACNA1A1Feb 14, 2020
CAPN31Apr 18, 2020
CCN61Apr 21, 2022
CDH232May 26, 2022
CDKL517Feb 14, 2020
CFAP4102Apr 21, 2022
CNPY32Feb 14, 2020
CNPY3-GNMT2Feb 14, 2020
COL10A13Nov 16, 2022
COL2A129Dec 6, 2022
COL9A33Apr 21, 2022
COMP13Nov 16, 2022
COX103Feb 1, 2023
CTSK1Oct 28, 2021
CUL74Apr 21, 2022
DARS21Mar 4, 2024
DYNC2H14Apr 21, 2022
DYNC2I21Apr 21, 2022
DYSF2Apr 18, 2020
EVC1Apr 21, 2022
EVC23Apr 21, 2022
FBN12Nov 16, 2022
FBXL41Jul 19, 2019
FLNA2Apr 21, 2022
FLNB4Apr 21, 2022
FN11Apr 21, 2022
GAA1Jan 24, 2022
GABRA11Feb 14, 2020
GABRB31Feb 14, 2020
GALNS10Jan 26, 2025
GAREM21Apr 18, 2020
GFM22Feb 1, 2023
GLB11Mar 20, 2022
GNAO11Feb 14, 2020
HADHA1Apr 18, 2020
HGD8Apr 18, 2020
HSPG23Apr 21, 2022
IARS22Feb 1, 2023
IDS44Dec 15, 2020
IFT1401Apr 21, 2022
IHH2Apr 21, 2022
INPPL12Apr 21, 2022
KCNB12Feb 14, 2020
KCNQ22Feb 14, 2020
KCNT11Feb 14, 2020
LDLR14Mar 10, 2025
LDLR-AS11Mar 10, 2025
LDLRAD22Apr 21, 2022
LIPA1Mar 6, 2020
LIPC1Feb 15, 2022
LMF11Jan 19, 2022
LOC1027240588Feb 14, 2020
LOC1053710461Apr 21, 2022
LOC1059435861Feb 1, 2023
LOC10605010219Dec 15, 2020
LOC1148034701Feb 14, 2020
LOC1254677682Feb 14, 2020
LOC1268069611Apr 21, 2022
LOC1268607721Apr 21, 2022
LOC1268613181Nov 16, 2022
LOC1300028992Feb 1, 2023
LOC1300063281Apr 21, 2022
LOC1300678621Jul 19, 2019
MATN31Apr 21, 2022
MIR68931Apr 21, 2022
MMP131Nov 16, 2022
NARS23Feb 1, 2023
NCAPH24Feb 1, 2023
NDUFA102Feb 1, 2023
NDUFAF51Feb 1, 2023
NDUFAF62Feb 1, 2023
NDUFS22Feb 1, 2023
NDUFS82Feb 1, 2023
NDUFV11Feb 1, 2023
NOTCH33Jan 19, 2023
NPC11Jan 9, 2021
NPR25Apr 21, 2022
NT5DC13Nov 16, 2022
PAPSS24Apr 21, 2022
PC6Oct 29, 2021
PCCA11Feb 19, 2021
PCCB5Feb 19, 2021
PCDH1910Feb 14, 2020
PDHA12Feb 1, 2023
PDHB2Feb 1, 2023
PEX11Apr 21, 2022
PHKA11Apr 18, 2020
PLIN11Dec 17, 2020
PMPCB1Feb 1, 2023
POLG10Jul 19, 2019
POLGARF10Jul 19, 2019
PPARG1Feb 15, 2022
RMRP2Apr 21, 2022
RS11Feb 14, 2020
SCARB12Feb 15, 2022
SCN1A12Feb 14, 2020
SCN2A9Feb 14, 2020
SCN8A6Feb 14, 2020
SCO25Feb 1, 2023
SGCA3Apr 18, 2020
SGCG1Apr 18, 2020
SLC19A31Feb 1, 2023
SLC26A27Apr 21, 2022
SMARCAL11Apr 21, 2022
STXBP14Feb 14, 2020
SUCLG11Feb 1, 2023
SURF115Feb 1, 2023
TK24Jul 19, 2019
TONSL4Apr 21, 2022
TONSL-AS11Apr 21, 2022
TRPV42Apr 21, 2022
TWNK9Jul 19, 2019
TYMP1Jul 19, 2019
VPS13D2Feb 1, 2023
WDR351Apr 21, 2022

Condition

NameSubmissionsLast Updated
3M syndrome 14Apr 21, 2022
Acrocapitofemoral dysplasia2Apr 21, 2022
Acromesomelic dysplasia 1, Maroteaux type5Apr 21, 2022
Acromesomelic dysplasia 31Apr 21, 2022
Acromicric dysplasia2Nov 16, 2022
Alkaptonuria8Apr 18, 2020
Alpers-like hepatocerebral syndrome1Jul 19, 2019
Asphyxiating thoracic dystrophy 34Apr 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A1Apr 18, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2C1Apr 18, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D3Apr 18, 2020
Autosomal recessive nonsyndromic hearing loss 122May 26, 2022
Axial spondylometaphyseal dysplasia2Apr 21, 2022
Biotin-responsive basal ganglia disease1Feb 1, 2023
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 14Feb 1, 2023
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 13Jan 19, 2023
Combined oxidative phosphorylation defect type 243Feb 1, 2023
Combined oxidative phosphorylation deficiency 392Feb 1, 2023
Cranioectodermal dysplasia 21Apr 21, 2022
Developmental and epileptic encephalopathy, 11Feb 14, 2020
Developmental and epileptic encephalopathy, 119Feb 14, 2020
Developmental and epileptic encephalopathy, 136Feb 14, 2020
Developmental and epileptic encephalopathy, 141Feb 14, 2020
Developmental and epileptic encephalopathy, 171Feb 14, 2020
Developmental and epileptic encephalopathy, 191Feb 14, 2020
Developmental and epileptic encephalopathy, 217Feb 14, 2020
Developmental and epileptic encephalopathy, 262Feb 14, 2020
Developmental and epileptic encephalopathy, 361Feb 14, 2020
Developmental and epileptic encephalopathy, 44Feb 14, 2020
Developmental and epileptic encephalopathy, 421Feb 14, 2020
Developmental and epileptic encephalopathy, 431Feb 14, 2020
Developmental and epileptic encephalopathy, 602Feb 14, 2020
Developmental and epileptic encephalopathy, 72Feb 14, 2020
Developmental and epileptic encephalopathy, 81Feb 14, 2020
Developmental and epileptic encephalopathy, 910Feb 14, 2020
Diastrophic dysplasia5Apr 21, 2022
Ellis-van Creveld syndrome4Apr 21, 2022
Epiphyseal dysplasia, multiple, 31Apr 21, 2022
Familial type 3 hyperlipoproteinemia1Feb 15, 2022
Familial type 5 hyperlipoproteinemia1Dec 17, 2020
Geleophysic dysplasia 12Nov 16, 2022
Glycogen storage disease IXd1Apr 18, 2020
Glycogen storage disease, type II1Jan 24, 2022
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 63Feb 15, 2022
Hypercholesterolemia, autosomal dominant, type B2Feb 15, 2022
Hypercholesterolemia, familial, 114Mar 10, 2025
Hypoalphalipoproteinemia, primary, 21Feb 15, 2022
Infantile onset spinocerebellar ataxia4Jul 19, 2019
Kniest dysplasia6Nov 16, 2022
Larsen syndrome4Apr 21, 2022
Leigh syndrome4Feb 1, 2023
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Mar 4, 2024
Lipase deficiency, combined1Jan 19, 2022
Lysosomal acid lipase deficiency1Mar 6, 2020
Metaphyseal chondrodysplasia, McKusick type2Apr 21, 2022
Metaphyseal chondrodysplasia, Schmid type3Nov 16, 2022
Metatropic dysplasia2Apr 21, 2022
Mitochondrial DNA depletion syndrome 11Jul 19, 2019
Mitochondrial DNA depletion syndrome 131Jul 19, 2019
Mitochondrial DNA depletion syndrome 91Feb 1, 2023
Mitochondrial DNA depletion syndrome, myopathic form4Jul 19, 2019
Mitochondrial complex I deficiency, nuclear type 161Feb 1, 2023
Mitochondrial complex I deficiency, nuclear type 172Feb 1, 2023
Mitochondrial complex I deficiency, nuclear type 22Feb 1, 2023
Mitochondrial complex I deficiency, nuclear type 222Feb 1, 2023
Mitochondrial complex I deficiency, nuclear type 41Feb 1, 2023
Mitochondrial complex I deficiency, nuclear type 62Feb 1, 2023
Mitochondrial complex IV deficiency, nuclear type 115Feb 1, 2023
Mitochondrial complex IV deficiency, nuclear type 33Feb 1, 2023
Mitochondrial trifunctional protein deficiency1Apr 18, 2020
Mucopolysaccharidosis type 64Jan 14, 2024
Mucopolysaccharidosis, MPS-II44Dec 15, 2020
Mucopolysaccharidosis, MPS-IV-A10Jan 26, 2025
Mucopolysaccharidosis, MPS-IV-B1Mar 20, 2022
Multiple epiphyseal dysplasia type 14Apr 21, 2022
Multiple epiphyseal dysplasia type 42Apr 21, 2022
Multiple epiphyseal dysplasia type 51Apr 21, 2022
Multiple mitochondrial dysfunctions syndrome 61Feb 1, 2023
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin2Apr 18, 2020
Niemann-Pick disease, type C11Jan 9, 2021
Opsismodysplasia2Apr 21, 2022
Oto-palato-digital syndrome, type II2Apr 21, 2022
PLIN1-related familial partial lipodystrophy1Dec 17, 2020
PPARG-related familial partial lipodystrophy1Feb 15, 2022
Peroxisome biogenesis disorder 1A (Zellweger)1Apr 21, 2022
Perrault syndrome 51Jul 19, 2019
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12Jul 19, 2019
Progressive pseudorheumatoid dysplasia1Apr 21, 2022
Progressive sclerosing poliodystrophy5Jul 19, 2019
Propionic acidemia16Feb 19, 2021
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome9Nov 16, 2022
Pyknodysostosis1Oct 28, 2021
Pyruvate carboxylase deficiency6Oct 29, 2021
Pyruvate dehydrogenase E1-alpha deficiency2Feb 1, 2023
Pyruvate dehydrogenase E1-beta deficiency2Feb 1, 2023
Saldino-Mainzer syndrome1Apr 21, 2022
Schimke immuno-osseous dysplasia1Apr 21, 2022
Schwartz-Jampel syndrome type 13Apr 21, 2022
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Jul 19, 2019
Severe myoclonic epilepsy in infancy12Feb 14, 2020
Short-rib thoracic dysplasia 11 with or without polydactyly1Apr 21, 2022
Sponastrime dysplasia4Apr 21, 2022
Spondyloepimetaphyseal dysplasia, Missouri type1Nov 16, 2022
Spondyloepimetaphyseal dysplasia, PAPSS2 type4Apr 21, 2022
Spondyloepimetaphyseal dysplasia, Strudwick type2Dec 2, 2021
Spondyloepiphyseal dysplasia congenita16Dec 6, 2022
Spondylometaphyseal dysplasia - Sutcliffe type1Apr 21, 2022
Spondyloperipheral dysplasia2Dec 2, 2021
Stickler syndrome2Apr 21, 2022
Stickler syndrome type 13Dec 2, 2021
X-linked chondrodysplasia punctata 12Nov 16, 2022
X-linked spondyloepimetaphyseal dysplasia1Nov 16, 2022
mitochondrial hepatopathy4Jul 19, 2019