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.auOrganization ID: 507992
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 69
Gene
| Gene | Submissions | Last Updated |
|---|
| ABCA1 | 1 | Dec 17, 2021 |
| ABCA12 | 1 | Dec 17, 2021 |
| ACE | 1 | Dec 17, 2021 |
| AHI1 | 2 | Dec 17, 2021 |
| ANO10 | 1 | Dec 17, 2021 |
| ARL2BP | 1 | Dec 17, 2021 |
| ASNS | 1 | Dec 17, 2021 |
| ATP1A3 | 1 | Dec 17, 2021 |
| B9D1 | 1 | Dec 17, 2021 |
| CACNA1E | 2 | Dec 17, 2021 |
| CC2D2A | 1 | Dec 17, 2021 |
| CD96 | 1 | Dec 17, 2021 |
| CDH23 | 2 | Dec 17, 2021 |
| CHD8 | 1 | Dec 17, 2021 |
| CIC | 1 | Dec 17, 2021 |
| CLN5 | 1 | Dec 17, 2021 |
| COL4A1 | 1 | Dec 17, 2021 |
| COL4A3 | 1 | Dec 17, 2021 |
| CZ1P-ASNS | 1 | Dec 17, 2021 |
| DMD | 1 | Dec 17, 2021 |
| DYSF | 2 | Dec 17, 2021 |
| FANCA | 2 | Dec 17, 2021 |
| FXN | 2 | Dec 17, 2021 |
| GAA | 1 | Apr 10, 2023 |
| GLI3 | 1 | Dec 17, 2021 |
| GSDME | 1 | Dec 17, 2021 |
| GYS1 | 1 | Dec 17, 2021 |
| HSD17B4 | 1 | Dec 17, 2021 |
| HSPG2 | 1 | Dec 17, 2021 |
| IBA57 | 2 | Dec 17, 2021 |
| IL11RA | 2 | Dec 17, 2021 |
| IQSEC2 | 1 | Dec 17, 2021 |
| KCNH2 | 2 | Dec 17, 2021 |
| LAMP2 | 1 | Dec 17, 2021 |
| LMOD2 | 1 | Dec 20, 2021 |
| LOC108510657 | 1 | Dec 17, 2021 |
| LOC111811965 | 1 | Dec 17, 2021 |
| LOC126861242 | 1 | Dec 17, 2021 |
| LOC130009913 | 1 | Dec 17, 2021 |
| MANBA | 1 | Dec 17, 2021 |
| MEA1 | 1 | Dec 17, 2021 |
| MFF-DT | 1 | Dec 17, 2021 |
| MIR4733HG | 1 | Dec 17, 2021 |
| MSH6 | 1 | Dec 17, 2021 |
| NDUFV1 | 1 | Dec 17, 2021 |
| NF1 | 1 | Dec 17, 2021 |
| OPHN1 | 2 | Dec 17, 2021 |
| PGAP1 | 1 | Dec 17, 2021 |
| PIGN | 1 | Dec 17, 2021 |
| PKD1 | 1 | Dec 17, 2021 |
| PPP2R5D | 1 | Dec 17, 2021 |
| PRPH2 | 1 | Dec 17, 2021 |
| PYGM | 1 | Dec 17, 2021 |
| SETD5 | 1 | Dec 17, 2021 |
| SNHG14 | 1 | Dec 17, 2021 |
| SNHG31 | 1 | Dec 17, 2021 |
| SPAST | 2 | Apr 6, 2021 |
| SPG11 | 1 | Dec 17, 2021 |
| STXBP1 | 1 | Dec 17, 2021 |
| TAFAZZIN | 1 | Dec 17, 2021 |
| TCF12 | 1 | Dec 17, 2021 |
| TRPM6 | 2 | Dec 17, 2021 |
| TUBA1A | 1 | Dec 17, 2021 |
| UBE3A | 1 | Dec 17, 2021 |
| VPS13D | 2 | Dec 17, 2021 |
| WDR45 | 1 | Dec 17, 2021 |
Condition
| Name | Submissions | Last Updated | | 3-Methylglutaconic aciduria type 2 | 1 | Dec 17, 2021 |
| Angelman syndrome | 1 | Dec 17, 2021 |
| Autosomal dominant Alport syndrome | 1 | Dec 17, 2021 |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 | Dec 17, 2021 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Dec 17, 2021 |
| Autosomal recessive congenital ichthyosis 4B | 1 | Dec 17, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Dec 17, 2021 |
| Autosomal recessive nonsyndromic hearing loss 12 | 2 | Dec 17, 2021 |
| Autosomal recessive spinocerebellar ataxia 10 | 1 | Dec 17, 2021 |
| Beta-D-mannosidosis | 1 | Dec 17, 2021 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | Dec 17, 2021 |
| C syndrome | 1 | Dec 17, 2021 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 1 | Dec 17, 2021 |
| Craniosynostosis and dental anomalies | 2 | Dec 17, 2021 |
| Danon disease | 1 | Dec 17, 2021 |
| Developmental and epileptic encephalopathy, 4 | 1 | Dec 17, 2021 |
| Developmental and epileptic encephalopathy, 69 | 2 | Dec 17, 2021 |
| Duchenne muscular dystrophy | 1 | Dec 17, 2021 |
| Dystonia 12 | 1 | Dec 17, 2021 |
| Familial isolated dilated cardiomyopathy | 1 | Dec 20, 2021 |
| Fanconi anemia complementation group A | 2 | Dec 17, 2021 |
| Friedreich ataxia 1 | 2 | Dec 17, 2021 |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 1 | Dec 17, 2021 |
| Glycogen storage disease, type II | 1 | Apr 10, 2023 |
| Glycogen storage disease, type V | 1 | Dec 17, 2021 |
| Hereditary spastic paraplegia 11 | 1 | Dec 17, 2021 |
| Hereditary spastic paraplegia 4 | 2 | Apr 6, 2021 |
| Hereditary spastic paraplegia 74 | 2 | Dec 17, 2021 |
| Hogue-Janssens syndrome 1 | 1 | Dec 17, 2021 |
| Hypoalphalipoproteinemia, primary, 1 | 1 | Dec 17, 2021 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Dec 17, 2021 |
| Intellectual disability, X-linked 1 | 1 | Dec 17, 2021 |
| Intellectual disability, autosomal dominant 45 | 1 | Dec 17, 2021 |
| Intellectual disability, autosomal recessive 42 | 1 | Dec 17, 2021 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Dec 17, 2021 |
| Intestinal hypomagnesemia 1 | 2 | Dec 17, 2021 |
| Joubert syndrome 27 | 1 | Dec 17, 2021 |
| Joubert syndrome 3 | 2 | Dec 17, 2021 |
| Joubert syndrome 9 | 1 | Dec 17, 2021 |
| Lethal Kniest-like syndrome | 1 | Dec 17, 2021 |
| Lissencephaly due to TUBA1A mutation | 1 | Dec 17, 2021 |
| Long QT syndrome 2 | 2 | Dec 17, 2021 |
| Lynch syndrome 1 | 1 | Dec 17, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 1 | Dec 17, 2021 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Dec 17, 2021 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Dec 17, 2021 |
| Neurofibromatosis, type 1 | 1 | Dec 17, 2021 |
| Neuronal ceroid lipofuscinosis 5 | 1 | Dec 17, 2021 |
| Patterned macular dystrophy 1 | 1 | Dec 17, 2021 |
| Perrault syndrome 1 | 1 | Dec 17, 2021 |
| Polycystic kidney disease, adult type | 1 | Dec 17, 2021 |
| Polysyndactyly 4 | 1 | Dec 17, 2021 |
| Renal tubular dysgenesis | 1 | Dec 17, 2021 |
| Retinitis pigmentosa with or without situs inversus | 1 | Dec 17, 2021 |
| Schwartz-Jampel syndrome | 1 | Dec 17, 2021 |
| TCF12-related craniosynostosis | 1 | Dec 17, 2021 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 2 | Dec 17, 2021 |
