Centre for Inherited Metabolic Diseases (Karolinska University Hospital), CMMS

General information

Centre for Inherited Metabolic Diseases, CMMS
Karolinska University Hospital
CMMS L7:05
Stockholm
Stockholms Lan
Sweden - 17176
http://www.karolinska.se/for-patienter/alla-mottagningar-och-avdelningar-a-o/karolinska-universitetslaboratoriet/Mottagningar/cmms/CMMS-Centrum-for-medfodda-metabola-sjukdomar/
Organization ID: 319999

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 99

Gene

GeneSubmissionsLast Updated
AASS2Mar 25, 2021
ACADS1Mar 23, 2021
ACADVL2Apr 13, 2021
ADA21Mar 23, 2021
ADK1May 3, 2017
AKR1D11Apr 13, 2021
ALDOB1Apr 7, 2021
ALG61Apr 13, 2021
AMT2Mar 12, 2021
ARSA4Mar 25, 2021
ATP7A2Apr 13, 2021
ATXN7L3-AS11Apr 13, 2021
BCKDHB2Apr 13, 2021
BRAF1Apr 13, 2021
CARD141Mar 25, 2021
CHD21Apr 13, 2021
CHRNA41Apr 13, 2021
CLN62Apr 13, 2021
DBT4Jun 25, 2020
DVL22Apr 13, 2021
GALC2Apr 7, 2021
GALNS3Apr 7, 2021
GAREM21Apr 7, 2021
GLUL2Mar 25, 2021
GSS1Mar 23, 2021
HADHA1Apr 7, 2021
HGSNAT1Apr 7, 2021
ISCU1Apr 7, 2021
ITPR12Apr 7, 2021
KCNT11Apr 26, 2021
LARS12Mar 25, 2021
LIPA1Apr 7, 2021
LOC1027240586Apr 26, 2021
LPIN11Apr 7, 2021
MAT1A1Apr 7, 2021
MEA11Apr 13, 2021
MFSD82Apr 7, 2021
MMAA1Apr 7, 2021
MMUT2Mar 16, 2021
MTHFR1Apr 7, 2021
MTR3Mar 25, 2021
NDUFB71Feb 25, 2021
NPC13Apr 7, 2021
OPLAH1Mar 23, 2021
PCCA1Mar 16, 2021
PIGA1Apr 13, 2021
PMM26Apr 28, 2020
POLR3A2Apr 13, 2021
PPP2R5D1Apr 13, 2021
PPT12Apr 13, 2021
PREPL1Apr 13, 2021
PRSS11Apr 13, 2021
RNASEH11Apr 13, 2021
SCN1A11Apr 26, 2021
SGSH3Mar 25, 2021
SLC20A21Apr 13, 2021
SLC3A13Apr 13, 2021
TRB1Apr 13, 2021
UBTF1Apr 13, 2021
USH2A2Mar 25, 2021
XDH1Mar 16, 2021

Condition

NameSubmissionsLast Updated
5-Oxoprolinase deficiency1Mar 23, 2021
Adenosine kinase deficiency1May 3, 2017
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Apr 13, 2021
Congenital bile acid synthesis defect 21Apr 13, 2021
Congenital brain dysgenesis due to glutamine synthetase deficiency2Mar 25, 2021
Congenital disorder of glycosylation type 1C1Apr 13, 2021
Congenital disorder of glycosylation, type Ia6Apr 28, 2020
Cystinuria3Apr 13, 2021
Deficiency of butyryl-CoA dehydrogenase1Mar 23, 2021
Developmental and epileptic encephalopathy 941Apr 13, 2021
Epilepsy1Apr 26, 2021
Epilepsy syndrome1Apr 26, 2021
Epilepsy, nocturnal frontal lobe, type 11Apr 13, 2021
Galactosylceramide beta-galactosidase deficiency2Apr 7, 2021
Generalized epilepsy with febrile seizures plus, type 21Apr 26, 2021
Gluthathione synthetase deficiency1Mar 23, 2021
Hepatic methionine adenosyltransferase deficiency1Apr 7, 2021
Hereditary fructosuria1Apr 7, 2021
Hereditary pancreatitis1Apr 13, 2021
Hereditary xanthinuria type 11Mar 16, 2021
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Apr 7, 2021
Hyperlysinemia2Mar 25, 2021
Hypomyelinating leukodystrophy 72Apr 13, 2021
Idiopathic basal ganglia calcification 11Apr 13, 2021
Infantile liver failure syndrome 12Mar 25, 2021
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1Apr 7, 2021
Lysosomal acid lipase deficiency1Apr 7, 2021
Maple syrup urine disease6Apr 13, 2021
Menkes kinky-hair syndrome2Apr 13, 2021
Mental retardation, autosomal dominant 351Apr 13, 2021
Metachromatic leukodystrophy4Mar 25, 2021
Methylcobalamin deficiency type cblG3Mar 25, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2Mar 16, 2021
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes1Feb 25, 2021
Mucopolysaccharidosis, MPS-III-A3Mar 25, 2021
Mucopolysaccharidosis, MPS-III-C1Apr 7, 2021
Mucopolysaccharidosis, MPS-IV-A3Apr 7, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 21Apr 13, 2021
Myoglobinuria, acute recurrent, autosomal recessive1Apr 7, 2021
Myopathy with lactic acidosis, hereditary1Apr 7, 2021
Neuronal ceroid lipofuscinosis 12Apr 13, 2021
Neuronal ceroid lipofuscinosis 62Apr 13, 2021
Neuronal ceroid lipofuscinosis 72Apr 7, 2021
Niemann-Pick disease type C13Apr 7, 2021
Non-ketotic hyperglycinemia2Mar 12, 2021
Noonan syndrome 71Apr 13, 2021
Polyarteritis nodosa, childhoood-onset1Mar 23, 2021
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21Apr 13, 2021
Propionic acidemia1Mar 16, 2021
Severe myoclonic epilepsy in infancy8Apr 26, 2021
Spinocerebellar ataxia type 292Apr 7, 2021
Usher syndrome, type 2A2Mar 25, 2021
Very long chain acyl-CoA dehydrogenase deficiency2Apr 13, 2021
Vitamin B12-responsive methylmalonic acidemia type cblA1Apr 7, 2021
West syndrome1Apr 26, 2021

Testing in GTR

Disease nameNumber of tests
Acute intermittent porphyria1 test
Adenosine kinase deficiency1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency1 test
Carnitine palmitoyltransferase II deficiency1 test
Cobalamin C disease1 test
Congenital erythropoietic porphyria1 test
Creatine transporter deficiency1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of galactokinase1 test
Fabry disease1 test
Familial porphyria cutanea tarda1 test
Glutaric aciduria, type 11 test
Gluthathione synthetase deficiency1 test
Hereditary coproporphyria1 test
Hereditary fructosuria1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Homocystinuria, cblD type, variant 11 test
Hypomyelination, global cerebral1 test
Infantile onset spinocerebellar ataxia1 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Leigh Syndrome (nuclear DNA mutation)1 test
MERRF syndrome1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Methylmalonic acidemia1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1 test
Mitochondrial DNA depletion syndrome 21 test
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
Mitochondrial diseases1 test
Mitochondrial trifunctional protein deficiency1 test
Mucopolysaccharidosis type 11 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Navajo neurohepatopathy1 test
Peroxisome biogenesis disorders, Zellweger syndrome spectrum1 test
Progressive sclerosing poliodystrophy1 test
Protoporphyria, erythropoietic, 11 test
Pyruvate dehydrogenase E1-alpha deficiency1 test
Renal carnitine transport defect1 test
Variegate porphyria1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
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