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: 51

Gene

GeneSubmissionsLast Updated
ACAD93Mar 8, 2020
ARX1Mar 8, 2020
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
LRRC561Mar 8, 2020
MECR2Mar 8, 2020
MT-ATP61Mar 8, 2020
MT-CO21Mar 8, 2020
MT-TE1Mar 8, 2020
MT-TL11Mar 8, 2020
MT-TS11Mar 8, 2020
NBAS2Mar 8, 2020
PET1001Mar 8, 2020
PNPT12Mar 8, 2020
RARS22Mar 8, 2020
RLIM1Sep 7, 2020
RRM2B2Mar 8, 2020
SERAC12Mar 8, 2020
SKIV2L2Mar 8, 2020
SLC39A81Mar 8, 2020

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia1Mar 8, 2020
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2Mar 8, 2020
Acyl-CoA dehydrogenase family, member 9, deficiency of3Mar 8, 2020
Combined oxidative phosphorylation deficiency 12Mar 8, 2020
Combined oxidative phosphorylation deficiency 132Mar 8, 2020
Costello syndrome1Mar 8, 2020
Deafness, autosomal recessive 702Mar 8, 2020
Decreased activity of mitochondrial complex III2Mar 8, 2020
Decreased activity of mitochondrial complex IV1Mar 8, 2020
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2Mar 8, 2020
Epileptic encephalopathy, early infantile, 11Mar 8, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Mar 8, 2020
Hydrops, lactic acidosis, and sideroblastic anemia4Jul 18, 2019
Infantile liver failure syndrome 22Mar 8, 2020
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Mar 8, 2020
Mental retardation, X-linked 611Sep 7, 2020
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy2Mar 8, 2020
Mitochondrial complex IV deficiency3Mar 8, 2020
Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 11Mar 8, 2020
Mitochondrial myopathy3Mar 8, 2020
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency2Mar 8, 2020
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
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