Centre for Inherited Metabolic Diseases (Karolinska University Hospital)

General information

Centre for Inherited Metabolic Diseases
Karolinska University Hospital
CMMS L7:05
Stockholm
Sweden - 17176
http://www.karolinska.se/cmms
Organization ID: 319999

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 176

Gene

GeneSubmissionsLast Updated
AASS2Mar 25, 2021
ACADS1Mar 23, 2021
ACADVL2Apr 13, 2021
ADA21Mar 23, 2021
ADK1May 3, 2017
AGL1Oct 17, 2022
AKR1D11Apr 13, 2021
ALDOB1Apr 7, 2021
ALG61Apr 13, 2021
AMT2Mar 12, 2021
ARHGEF92May 9, 2023
ARSA4Mar 25, 2021
ASL1Feb 21, 2024
ASXL31Mar 11, 2024
ATAD3A1Oct 10, 2022
ATM2Mar 1, 2024
ATP1A22May 9, 2023
ATP7A2Apr 13, 2021
ATP8B11May 16, 2023
ATXN7L3-AS11Apr 13, 2021
BCKDHB2Apr 13, 2021
BCL11A1Oct 17, 2022
BRAF1Apr 13, 2021
C11orf652Mar 1, 2024
CARD141Mar 25, 2021
CDKL51Nov 29, 2023
CFAP962Nov 29, 2023
CHD22Jan 31, 2023
CHRNA41Apr 13, 2021
CLN62Apr 13, 2021
COA81May 15, 2023
COQ71Mar 1, 2024
COQ8A2Mar 20, 2024
DBT4Jun 25, 2020
DVL22Apr 13, 2021
EIF2B53Mar 11, 2024
ELAC21Mar 11, 2024
FGF131Oct 7, 2022
FRMD51May 9, 2023
GABRA11Nov 22, 2022
GALC2Apr 7, 2021
GALNS3Apr 7, 2021
GAREM21Apr 7, 2021
GCK2Apr 4, 2024
GFAP1Feb 27, 2024
GLUL2Mar 25, 2021
GNB11Dec 1, 2022
GRIN11Nov 3, 2022
GSS1Mar 23, 2021
HADHA1Apr 7, 2021
HGSNAT1Apr 7, 2021
HNF1A2Dec 7, 2022
HSD17B101May 16, 2023
IRF2BPL1Jan 19, 2023
ISCU1Apr 7, 2021
ITPR12Apr 7, 2021
KARS12Nov 22, 2022
KCNH51Oct 17, 2023
KCNQ21Oct 12, 2022
KCNT11Apr 26, 2021
LARS13Oct 30, 2023
LIPA1Apr 7, 2021
LIPT21May 16, 2023
LIPT2-AS11May 16, 2023
LOC1027240587Jan 31, 2023
LOC1268058901Jan 31, 2023
LOC1268059441Mar 25, 2021
LOC1268065901Apr 7, 2021
LOC1268069131Nov 22, 2022
LPIN11Apr 7, 2021
MAST11May 9, 2023
MAT1A1Apr 7, 2021
MCCC21Feb 27, 2024
MEA11Apr 13, 2021
MFSD82Apr 7, 2021
MMAA1Apr 7, 2021
MMUT4Oct 17, 2023
MPV172Mar 1, 2024
MTHFR1Apr 7, 2021
MTR3Mar 25, 2021
NDUFB71Feb 25, 2021
NKX6-21May 9, 2023
NPC13Apr 7, 2021
NR2F11Mar 11, 2024
NR2F1-AS11Mar 11, 2024
NUS11Oct 17, 2023
OPA11Nov 22, 2022
OPLAH1Mar 23, 2021
PAH1Feb 21, 2024
PC1Jun 14, 2022
PCCA1Mar 16, 2021
PCDH191Feb 27, 2024
PEX11May 9, 2023
PHKA21Oct 7, 2022
PIGA1Apr 13, 2021
PIGT1Mar 20, 2024
PMM26Apr 28, 2020
POLR3A2Apr 13, 2021
PPP2R5D1Apr 13, 2021
PPT12Apr 13, 2021
PREPL1Apr 13, 2021
PRSS11Apr 13, 2021
PYCR21Mar 20, 2024
RAB3GAP11Mar 1, 2024
RNASEH11Apr 13, 2021
SACS2Mar 20, 2024
SCN1A12Jan 31, 2023
SCN8A2Nov 29, 2023
SERAC11Mar 1, 2024
SGSH3Mar 25, 2021
SLC12A52Mar 1, 2024
SLC20A21Apr 13, 2021
SLC3A13Apr 13, 2021
SLC4A112Oct 17, 2023
SQSTM11Mar 20, 2024
SUCLA21May 15, 2023
TBCK1Mar 20, 2024
TBL1XR11Oct 24, 2023
TRB1Apr 13, 2021
TSC21Oct 7, 2022
UBTF1Apr 13, 2021
UFSP22Nov 29, 2023
UGT1A1Jan 31, 2023
UGT1A11Jan 31, 2023
UGT1A101Jan 31, 2023
UGT1A31Jan 31, 2023
UGT1A41Jan 31, 2023
UGT1A51Jan 31, 2023
UGT1A61Jan 31, 2023
UGT1A71Jan 31, 2023
UGT1A81Jan 31, 2023
UGT1A91Jan 31, 2023
USH2A2Mar 25, 2021
WDR451Oct 17, 2023
XDH1Mar 16, 2021

Condition

NameSubmissionsLast Updated
3-methylcrotonyl-CoA carboxylase 2 deficiency1Feb 27, 2024
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Mar 1, 2024
5-Oxoprolinase deficiency1Mar 23, 2021
ALG6-congenital disorder of glycosylation 1C1Apr 13, 2021
Adenosine kinase deficiency1May 3, 2017
Alexander disease1Feb 27, 2024
Argininosuccinate lyase deficiency1Feb 21, 2024
Ataxia-telangiectasia syndrome2Mar 1, 2024
Autosomal dominant nocturnal frontal lobe epilepsy 11Apr 13, 2021
Autosomal dominant optic atrophy classic form1Nov 22, 2022
Autosomal recessive ataxia due to ubiquinone deficiency2Mar 20, 2024
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 11, 2024
Ceroid lipofuscinosis, neuronal, 6A2Apr 13, 2021
Charlevoix-Saguenay spastic ataxia2Mar 20, 2024
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Apr 13, 2021
Combined oxidative phosphorylation defect type 171Mar 11, 2024
Congenital bile acid synthesis defect 21Apr 13, 2021
Congenital brain dysgenesis due to glutamine synthetase deficiency2Mar 25, 2021
Congenital hereditary endothelial dystrophy of cornea2Oct 17, 2023
Crigler-Najjar syndrome, type II1Jan 31, 2023
Cystinuria3Apr 13, 2021
Deficiency of butyryl-CoA dehydrogenase1Mar 23, 2021
Developmental and epileptic encephalopathy 1062Nov 29, 2023
Developmental and epileptic encephalopathy 1121Oct 17, 2023
Developmental and epileptic encephalopathy 942Jan 31, 2023
Developmental and epileptic encephalopathy 981May 9, 2023
Developmental and epileptic encephalopathy, 132Nov 29, 2023
Developmental and epileptic encephalopathy, 191Nov 22, 2022
Developmental and epileptic encephalopathy, 21Nov 29, 2023
Developmental and epileptic encephalopathy, 342Mar 1, 2024
Developmental and epileptic encephalopathy, 71Oct 12, 2022
Developmental and epileptic encephalopathy, 82May 9, 2023
Developmental and epileptic encephalopathy, 91Feb 27, 2024
Developmental and epileptic encephalopathy, 901Oct 7, 2022
Dias-Logan syndrome1Oct 17, 2022
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities1May 16, 2023
Epilepsy1Apr 26, 2021
Epilepsy syndrome1Apr 26, 2021
Galactosylceramide beta-galactosidase deficiency2Apr 7, 2021
Generalized epilepsy with febrile seizures plus, type 22Jan 31, 2023
Glycogen storage disease IXa11Oct 7, 2022
Glycogen storage disease type III1Oct 17, 2022
HSD10 mitochondrial disease1May 16, 2023
Harel-Yoon syndrome1Oct 10, 2022
Hepatic methionine adenosyltransferase deficiency1Apr 7, 2021
Hereditary fructosuria1Apr 7, 2021
Hereditary myopathy with lactic acidosis due to ISCU deficiency1Apr 7, 2021
Hereditary pancreatitis1Apr 13, 2021
Hereditary xanthinuria type 11Mar 16, 2021
Hogue-Janssens syndrome 11Apr 13, 2021
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Apr 7, 2021
Hyperlysinemia2Mar 25, 2021
Hypomyelinating leukodystrophy 101Mar 20, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Mar 20, 2024
Idiopathic basal ganglia calcification 11Apr 13, 2021
Infantile liver failure syndrome 13Oct 30, 2023
Inherited glutathione synthetase deficiency1Mar 23, 2021
Intellectual disability, autosomal dominant 411Oct 24, 2023
Intellectual disability, autosomal dominant 421Dec 1, 2022
Intellectual disability, autosomal dominant 55, with seizures1Oct 17, 2023
Intellectual disability, autosomal dominant 81Nov 3, 2022
Leukoencephalopathy with vanishing white matter 53Mar 11, 2024
Leukoencephalopathy, progressive, infantile-onset, with or without deafness2Nov 22, 2022
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome2Apr 13, 2021
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1Apr 7, 2021
Lysosomal acid lipase deficiency1Apr 7, 2021
Maple syrup urine disease6Apr 13, 2021
Maturity-onset diabetes of the young type 22Apr 4, 2024
Maturity-onset diabetes of the young type 32Dec 7, 2022
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1May 9, 2023
Menkes kinky-hair syndrome2Apr 13, 2021
Metachromatic leukodystrophy4Mar 25, 2021
Methylcobalamin deficiency type cblG3Mar 25, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency4Oct 17, 2023
Methylmalonic aciduria, cblA type1Apr 7, 2021
Migraine, familial hemiplegic, 21Jan 31, 2023
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2Mar 1, 2024
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1May 15, 2023
Mitochondrial complex 4 deficiency, nuclear type 171May 15, 2023
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
Multiple congenital anomalies-hypotonia-seizures syndrome 31Mar 20, 2024
Myoglobinuria, acute recurrent, autosomal recessive1Apr 7, 2021
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1Mar 20, 2024
Neurodegeneration with brain iron accumulation 51Oct 17, 2023
Neurodevelopmental disorder with eye movement abnormalities and ataxia1May 9, 2023
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Jan 19, 2023
Neuronal ceroid lipofuscinosis 12Apr 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
PMM2-congenital disorder of glycosylation6Apr 28, 2020
Peroxisome biogenesis disorder 1A (Zellweger)1May 9, 2023
Phenylketonuria1Feb 21, 2024
Primary coenzyme Q10 deficiency 81Mar 1, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21Apr 13, 2021
Progressive familial intrahepatic cholestasis type 11May 16, 2023
Propionic acidemia1Mar 16, 2021
Pyruvate carboxylase deficiency1Jun 14, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Mar 11, 2024
Severe myoclonic epilepsy in infancy8Apr 26, 2021
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1May 9, 2023
Spinocerebellar ataxia type 292Apr 7, 2021
Tuberous sclerosis 21Oct 7, 2022
Usher syndrome type 2A2Mar 25, 2021
Vasculitis due to ADA2 deficiency1Mar 23, 2021
Very long chain acyl-CoA dehydrogenase deficiency2Apr 13, 2021
Warburg micro syndrome 11Mar 1, 2024
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
Creatine transporter deficiency1 test
Cutaneous porphyria1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of galactokinase1 test
Developmental and epileptic encephalopathy, 391 test
Fabry disease1 test
Familial porphyria cutanea tarda1 test
Glutaric aciduria, type 11 test
Hereditary coproporphyria1 test
Hereditary fructosuria1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Homocystinuria, cblD type, variant 11 test
Infantile onset spinocerebellar ataxia1 test
Inherited glutathione synthetase deficiency1 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 11 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial disease1 test
Mitochondrial trifunctional protein deficiency1 test
Mucopolysaccharidosis type 11 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Peroxisome biogenesis disorder1 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