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Kids Research (The Children's Hospital at Westmead), KR

General information

Kids Research, KR
The Children's Hospital at Westmead
Hawkesbury Rd
Northmead
New South Wales
Australia - 2154

Organization ID: 506697

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 55

Gene

GeneSubmissionsLast Updated
ACAD93Mar 8, 2020
ARX1Mar 8, 2020
ATP2B12Jan 16, 2022
BCS1L2Mar 8, 2020
CLPB1Mar 8, 2020
COX102Mar 8, 2020
ECHS12Mar 8, 2020
EPG52Mar 8, 2020
FDFT13Sep 27, 2018
G6PC12Mar 8, 2020
GFM12Mar 8, 2020
HRAS1Mar 8, 2020
LARS28Jul 18, 2019
LARS2-AS13Jul 18, 2019
LOC1299999031Sep 27, 2018
LOC1300008961Mar 8, 2020
LRRC561Mar 8, 2020
MECR2Mar 8, 2020
MT-ATP61Mar 8, 2020
MT-ATP81Mar 8, 2020
MT-CO11Mar 8, 2020
MT-CO22Mar 8, 2020
MT-CO31Mar 8, 2020
MT-ND11Mar 8, 2020
MT-ND21Mar 8, 2020
MT-ND31Mar 8, 2020
MT-ND41Mar 8, 2020
MT-ND4L1Mar 8, 2020
MT-ND51Mar 8, 2020
MT-TA1Mar 8, 2020
MT-TC1Mar 8, 2020
MT-TD1Mar 8, 2020
MT-TE1Mar 8, 2020
MT-TG1Mar 8, 2020
MT-TH1Mar 8, 2020
MT-TI1Mar 8, 2020
MT-TK1Mar 8, 2020
MT-TL11Mar 8, 2020
MT-TM1Mar 8, 2020
MT-TN1Mar 8, 2020
MT-TQ1Mar 8, 2020
MT-TR1Mar 8, 2020
MT-TS12Mar 8, 2020
MT-TS21Mar 8, 2020
MT-TW1Mar 8, 2020
MT-TY1Mar 8, 2020
NBAS2Mar 8, 2020
PET1001Mar 8, 2020
PNPT12Mar 8, 2020
RARS22Mar 8, 2020
RLIM1Sep 7, 2020
RRM2B2Mar 8, 2020
SERAC12Mar 8, 2020
SKIC22Mar 8, 2020
SLC39A81Mar 8, 2020
SLC5A62Dec 5, 2022
STXBP21Mar 8, 2020

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2Mar 8, 2020
3-methylglutaconic aciduria, type VIIB1Mar 8, 2020
Acyl-CoA dehydrogenase 9 deficiency3Mar 8, 2020
Autosomal recessive nonsyndromic hearing loss 702Mar 8, 2020
Clubfoot2Jan 16, 2022
Combined oxidative phosphorylation defect type 132Mar 8, 2020
Costello syndrome1Mar 8, 2020
Decreased activity of mitochondrial complex III2Mar 8, 2020
Decreased activity of mitochondrial complex IV1Mar 8, 2020
Developmental and epileptic encephalopathy, 11Mar 8, 2020
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2Mar 8, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Mar 8, 2020
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12Mar 8, 2020
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome4Jul 18, 2019
Hypocalcemia2Jan 16, 2022
Inborn mitochondrial myopathy3Mar 8, 2020
Infantile liver failure syndrome 22Mar 8, 2020
Intellectual disability, X-linked 611Sep 7, 2020
Isolated Pierre-Robin syndrome2Jan 16, 2022
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Mar 8, 2020
Mitochondrial DNA depletion syndrome 8a2Mar 8, 2020
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 11Mar 8, 2020
Mitochondrial complex IV deficiency, nuclear type 13Mar 8, 2020
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency2Mar 8, 2020
Neurodegeneration, infantile-onset, biotin-responsive2Dec 5, 2022
Neurodevelopmental delay2Jan 16, 2022
Periventricular nodular heterotopia2Jan 16, 2022
Perrault syndrome 42Jul 18, 2019
Pontocerebellar hypoplasia type 62Mar 8, 2020
SLC39A8-CDG1Mar 8, 2020
Squalene synthase deficiency3Sep 27, 2018
Trichohepatoenteric syndrome 22Mar 8, 2020
Vici syndrome2Mar 8, 2020
neonatal lactic acidosis1Mar 8, 2020