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Kids Neuroscience Centre (Sydney Children's Hospitals Network), KNC

General information

Kids Neuroscience Centre, KNC
Sydney Children's Hospitals Network
Cnr Hawkesbury Road and Hainsworth Street
Westmead
New South Wales
Australia - 2145
http://www.kidsneuroscience.org.au
Organization ID: 507992

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 69

Gene

GeneSubmissionsLast Updated
ABCA11Dec 17, 2021
ABCA121Dec 17, 2021
ACE1Dec 17, 2021
AHI12Dec 17, 2021
ANO101Dec 17, 2021
ARL2BP1Dec 17, 2021
ASNS1Dec 17, 2021
ATP1A31Dec 17, 2021
B9D11Dec 17, 2021
CACNA1E2Dec 17, 2021
CC2D2A1Dec 17, 2021
CD961Dec 17, 2021
CDH232Dec 17, 2021
CHD81Dec 17, 2021
CIC1Dec 17, 2021
CLN51Dec 17, 2021
COL4A11Dec 17, 2021
COL4A31Dec 17, 2021
CZ1P-ASNS1Dec 17, 2021
DMD1Dec 17, 2021
DYSF2Dec 17, 2021
FANCA2Dec 17, 2021
FXN2Dec 17, 2021
GAA1Dec 17, 2021
GLI31Dec 17, 2021
GSDME1Dec 17, 2021
GYS11Dec 17, 2021
HSD17B41Dec 17, 2021
HSPG21Dec 17, 2021
IBA572Dec 17, 2021
IL11RA2Dec 17, 2021
IQSEC21Dec 17, 2021
KCNH22Dec 17, 2021
LAMP21Dec 17, 2021
LMOD21Dec 20, 2021
LOC1085106571Dec 17, 2021
MANBA1Dec 17, 2021
MEA11Dec 17, 2021
MFF-DT1Dec 17, 2021
MSH61Dec 17, 2021
NDUFV11Dec 17, 2021
NF11Dec 17, 2021
OPHN12Dec 17, 2021
PGAP11Dec 17, 2021
PIGN1Dec 17, 2021
PKD11Dec 17, 2021
PPP2R5D1Dec 17, 2021
PRPH21Dec 17, 2021
PYGM1Dec 17, 2021
SETD51Dec 17, 2021
SNHG141Dec 17, 2021
SNHG311Dec 17, 2021
SPAST2Apr 6, 2021
SPG111Dec 17, 2021
STXBP11Dec 17, 2021
TAFAZZIN1Dec 17, 2021
TCF121Dec 17, 2021
TRPM62Dec 17, 2021
TUBA1A1Dec 17, 2021
UBE3A1Dec 17, 2021
VPS13D2Dec 17, 2021
WDR451Dec 17, 2021

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 21Dec 17, 2021
Angelman syndrome1Dec 17, 2021
Autism, susceptibility to, 181Dec 17, 2021
Autosomal dominant Alport syndrome1Dec 17, 2021
Autosomal dominant nonsyndromic hearing loss 51Dec 17, 2021
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Dec 17, 2021
Autosomal recessive congenital ichthyosis 4B1Dec 17, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2B2Dec 17, 2021
Autosomal recessive nonsyndromic hearing loss 122Dec 17, 2021
Autosomal recessive spinocerebellar ataxia 101Dec 17, 2021
Beta-D-mannosidosis1Dec 17, 2021
Brain small vessel disease 1 with or without ocular anomalies1Dec 17, 2021
C syndrome1Dec 17, 2021
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1Dec 17, 2021
Craniosynostosis and dental anomalies2Dec 17, 2021
Danon disease1Dec 17, 2021
Developmental and epileptic encephalopathy, 41Dec 17, 2021
Developmental and epileptic encephalopathy, 692Dec 17, 2021
Duchenne muscular dystrophy1Dec 17, 2021
Dystonia 121Dec 17, 2021
Familial isolated dilated cardiomyopathy1Dec 20, 2021
Fanconi anemia complementation group A2Dec 17, 2021
Friedreich ataxia 12Dec 17, 2021
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1Dec 17, 2021
Glycogen storage disease, type II1Dec 17, 2021
Glycogen storage disease, type V1Dec 17, 2021
Hereditary spastic paraplegia 111Dec 17, 2021
Hereditary spastic paraplegia 42Apr 6, 2021
Hereditary spastic paraplegia 742Dec 17, 2021
Hypoalphalipoproteinemia, primary, 11Dec 17, 2021
Intellectual disability, X-linked 11Dec 17, 2021
Intellectual disability, autosomal dominant 451Dec 17, 2021
Intellectual disability, autosomal recessive 421Dec 17, 2021
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Dec 17, 2021
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome1Dec 17, 2021
Intestinal hypomagnesemia 12Dec 17, 2021
Joubert syndrome 271Dec 17, 2021
Joubert syndrome 32Dec 17, 2021
Joubert syndrome 91Dec 17, 2021
Lethal Kniest-like syndrome1Dec 17, 2021
Lissencephaly due to TUBA1A mutation1Dec 17, 2021
Long QT syndrome 22Dec 17, 2021
Lynch syndrome 11Dec 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 41Dec 17, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 11Dec 17, 2021
Neurodegeneration with brain iron accumulation 51Dec 17, 2021
Neurofibromatosis, type 11Dec 17, 2021
Neuronal ceroid lipofuscinosis 51Dec 17, 2021
Patterned macular dystrophy 11Dec 17, 2021
Perrault syndrome 11Dec 17, 2021
Polycystic kidney disease, adult type1Dec 17, 2021
Polysyndactyly 41Dec 17, 2021
Renal tubular dysgenesis1Dec 17, 2021
Retinitis pigmentosa with or without situs inversus1Dec 17, 2021
Schwartz-Jampel syndrome1Dec 17, 2021
TCF12-related craniosynostosis1Dec 17, 2021
X-linked intellectual disability-cerebellar hypoplasia syndrome2Dec 17, 2021
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