Victorian Clinical Genetics Services (Murdoch Childrens Research Institute)

General information

Victorian Clinical Genetics Services
Murdoch Childrens Research Institute
50 Flemington Rd
Melbourne
Victoria
Australia - 3052
http://www.vcgs.org.au/pathology/
Organization ID: 500104

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 322

Gene

GeneSubmissionsLast Updated
ABCA121Nov 9, 2017
ABCA31Oct 1, 2019
ABCC62Oct 1, 2019
ABCC91Nov 1, 2016
ABCD11Nov 9, 2017
ACTG21Nov 1, 2016
AGXT1Jun 9, 2020
ALG12Oct 1, 2019
AMPD22Aug 30, 2020
ANKRD111Oct 1, 2019
ASNS1Oct 1, 2019
ASPA1Oct 1, 2019
ATP1A31Nov 1, 2016
ATP6V1B11Aug 30, 2020
ATRIP2Nov 1, 2016
ATRIP-TREX12Nov 1, 2016
AVPR22Aug 30, 2020
BBS102Aug 30, 2020
BBS91Aug 30, 2020
BCHE1Oct 1, 2019
BOLA31Oct 1, 2019
CACNA1A1Oct 1, 2019
CACNA1H1Oct 1, 2019
CASR1Aug 30, 2020
CC2D2A1Oct 1, 2019
CFTR1Oct 1, 2019
CFTR-AS11Oct 1, 2019
CHD73Oct 1, 2019
CHRDL11Nov 1, 2016
CLCN53Aug 30, 2020
CLCN71Nov 9, 2017
CLCNKB1Aug 30, 2020
CLDN161Aug 30, 2020
COCH1Aug 15, 2019
COL1A21Nov 1, 2016
COL2A11Aug 15, 2019
COL4A11Aug 30, 2020
COL4A38Aug 30, 2020
COL4A412Aug 30, 2020
COL4A511Aug 30, 2020
COL7A12Nov 9, 2017
COLQ1Oct 1, 2019
CPLANE11Oct 1, 2019
CRYAB1Oct 1, 2019
CUBN2Aug 30, 2020
CUL4B1Oct 1, 2019
CZ1P-ASNS1Oct 1, 2019
DARS12Nov 9, 2017
DDC2Nov 9, 2017
DNAH51Nov 1, 2016
DYNC2H12Nov 1, 2016
ECHS15Oct 1, 2019
EFTUD21Nov 9, 2017
ELP22Oct 1, 2019
ENPP12Oct 1, 2019
ERCC12Sep 16, 2020
ERCC61Aug 15, 2019
ESRRB1Aug 15, 2019
EYA11Aug 30, 2020
FAN12Aug 30, 2020
FAT11Oct 1, 2019
FGFR21Aug 15, 2019
FN11Aug 30, 2020
FOXG11Nov 1, 2016
FOXRED12Oct 1, 2019
GATA33Aug 30, 2020
GJB211Aug 30, 2020
GLDN1Oct 1, 2019
GRIK21Oct 1, 2019
GRIN2A1Oct 1, 2019
GTPBP31Oct 1, 2019
HDAC82Aug 30, 2020
HECW21Oct 1, 2019
HLCS1Nov 1, 2016
HMGCS22Oct 1, 2019
HNF1B5Aug 30, 2020
HRAS1Nov 9, 2017
HSD17B101Oct 1, 2019
HUWE12Oct 1, 2019
IFT1722Aug 30, 2020
IGHMBP22Oct 1, 2019
IREB22Oct 1, 2019
KAT6A1Nov 1, 2016
KAT6B1Nov 1, 2016
KCNJ13Aug 30, 2020
KCNQ21Oct 1, 2019
KIAA05861Nov 1, 2016
KMT2A1Nov 9, 2017
KMT2D3Oct 1, 2019
KRTCAP31Aug 30, 2020
LBR1Nov 1, 2016
LOC1005060711Aug 15, 2019
LOC1027240582Oct 1, 2019
LOC1053710494Aug 30, 2020
LOC1053715663Aug 30, 2020
LOC1065017131Aug 30, 2020
LOXHD13Aug 30, 2020
LRRC561Nov 9, 2017
MECP21Nov 9, 2017
MFF-DT8Aug 30, 2020
MIR12251Aug 30, 2020
MITF1Aug 15, 2019
MTM11Nov 1, 2016
MTMR102Aug 30, 2020
MYMK2Oct 1, 2019
MYO15A10Aug 30, 2020
MYO5B2Nov 9, 2017
MYO7A3Aug 15, 2019
NALCN1Nov 1, 2016
NDUFAF51Oct 1, 2019
NEU11Oct 1, 2019
NF11Oct 1, 2019
NIPBL3Oct 1, 2019
NKIRAS11Oct 1, 2019
NPHP11Aug 30, 2020
NPHS12Aug 30, 2020
NSD12Nov 9, 2017
OTOA1Aug 15, 2019
OTOG1Aug 15, 2019
PAH2Oct 1, 2019
PCCA1Oct 1, 2019
PDZD72Aug 30, 2020
PHOX2B1Oct 1, 2019
PI4KA1Oct 1, 2019
PIGN1Aug 30, 2020
PKD114Aug 30, 2020
PKD21Aug 30, 2020
PKHD117Aug 30, 2020
PMM22Nov 9, 2017
PNPLA81Oct 1, 2019
POLG1Oct 1, 2019
POMGNT11Nov 1, 2016
POMT11Oct 1, 2019
PPP1R211Oct 1, 2019
PTPN113Oct 1, 2019
PTPN231Oct 1, 2019
RARB1Oct 1, 2019
RET1Oct 1, 2019
RIT12Oct 1, 2019
RNF2131Oct 1, 2019
RNF213-AS11Oct 1, 2019
ROBO31Oct 1, 2019
RPL151Oct 1, 2019
RYR11Oct 1, 2019
SCN1A2Oct 1, 2019
SCN2A1Nov 9, 2017
SCN5A1Oct 1, 2019
SDHA2Aug 30, 2020
SLC12A34Aug 30, 2020
SLC19A32Nov 1, 2016
SLC26A47Aug 15, 2019
SLC34A11Aug 30, 2020
SLC52A31Nov 9, 2017
SMARCAL11Oct 1, 2019
SMARCB11Oct 1, 2019
SNHG222Nov 9, 2017
SNHG311Nov 9, 2017
SON1Aug 15, 2019
SOX111Oct 1, 2019
SPATA221Oct 1, 2019
SPINK52Oct 1, 2019
SPTB2Oct 1, 2019
SRCAP1Aug 30, 2020
STAT11Nov 1, 2016
STRC1Aug 15, 2019
STXBP12Oct 1, 2019
SZT22Oct 1, 2019
TANGO21Oct 1, 2019
TBCD2Oct 1, 2019
TBCEL-TECTA2Aug 30, 2020
TBX51Nov 1, 2016
TECTA2Aug 30, 2020
TK22Oct 1, 2019
TMEM672Aug 30, 2020
TREX12Nov 1, 2016
TSC11Aug 30, 2020
TSPAN11Nov 1, 2016
TTC7A3Nov 1, 2016
TTN1Nov 9, 2017
TTN-AS11Nov 9, 2017
UMOD2Aug 30, 2020
USH2A3Aug 30, 2020
USP9X1Nov 9, 2017
VPS13B1Nov 1, 2016

Condition

NameSubmissionsLast Updated
ALG1-CDG2Oct 1, 2019
Adrenoleukodystrophy1Nov 9, 2017
Aicardi Goutieres syndrome 12Nov 1, 2016
Alport syndrome 1, X-linked recessive11Aug 30, 2020
Alport syndrome 3, autosomal dominant7Aug 30, 2020
Alport syndrome, autosomal recessive1Aug 30, 2020
Alternating hemiplegia of childhood 21Nov 1, 2016
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1Aug 30, 2020
Arboleda-Tham syndrome1Nov 1, 2016
Arterial calcification, generalized, of infancy, 12Oct 1, 2019
Asparagine synthetase deficiency1Oct 1, 2019
Autosomal dominant medullary cystic kidney disease with hyperuricemia2Aug 30, 2020
Autosomal recessive congenital ichthyosis 4B1Nov 9, 2017
Autosomal recessive osteopetrosis 41Nov 9, 2017
Autosomal recessive polycystic kidney disease17Aug 30, 2020
Bardet-Biedl syndrome 102Aug 30, 2020
Bardet-Biedl syndrome 91Aug 30, 2020
Bartter syndrome, type 2, antenatal3Aug 30, 2020
Benign familial hematuria12Aug 30, 2020
Biotin-responsive basal ganglia disease2Nov 1, 2016
Blepharophimosis - intellectual disability syndrome, SBBYS type1Nov 1, 2016
Branchiootorenal Syndrome 11Aug 30, 2020
Brown-Vialetto-Van Laere syndrome 11Nov 9, 2017
CHARGE association3Oct 1, 2019
Central core myopathy1Oct 1, 2019
Cholestatic liver disease2Sep 16, 2020
Ciliary dyskinesia, primary, 31Nov 1, 2016
Cockayne syndrome B1Aug 15, 2019
Cohen syndrome1Nov 1, 2016
Congenital central hypoventilation1Oct 1, 2019
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Nov 1, 2016
Congenital disorder of glycosylation, type Ia2Nov 9, 2017
Congenital microvillous atrophy2Nov 9, 2017
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B31Nov 1, 2016
Congenital nonprogressive myopathy with Moebius and Robin sequences2Oct 1, 2019
Cornelia de Lange syndrome 13Oct 1, 2019
Cornelia de Lange syndrome 52Aug 30, 2020
Costello syndrome1Nov 9, 2017
Cutaneous photosensitivity2Sep 16, 2020
Cystic fibrosis1Oct 1, 2019
Deafness, autosomal dominant 122Aug 30, 2020
Deafness, autosomal dominant 3a1Aug 15, 2019
Deafness, autosomal recessive 1101Aug 15, 2019
Deafness, autosomal recessive 161Aug 15, 2019
Deafness, autosomal recessive 18b1Aug 15, 2019
Deafness, autosomal recessive 1A10Aug 30, 2020
Deafness, autosomal recessive 23Aug 15, 2019
Deafness, autosomal recessive 221Aug 15, 2019
Deafness, autosomal recessive 310Aug 30, 2020
Deafness, autosomal recessive 351Aug 15, 2019
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct7Aug 15, 2019
Deafness, autosomal recessive 572Aug 30, 2020
Deafness, autosomal recessive 773Aug 30, 2020
Deficiency of aromatic-L-amino-acid decarboxylase2Nov 9, 2017
Deficiency of butyrylcholine esterase1Oct 1, 2019
Dent disease type 13Aug 30, 2020
Diamond-Blackfan anemia 121Oct 1, 2019
Dilated cardiomyopathy 1E1Oct 1, 2019
Dilated cardiomyopathy 1II1Oct 1, 2019
Early infantile epileptic encephalopathy 111Nov 9, 2017
Early infantile epileptic encephalopathy 182Oct 1, 2019
Early infantile epileptic encephalopathy 42Oct 1, 2019
Early infantile epileptic encephalopathy 71Oct 1, 2019
Elliptocytosis 31Aug 15, 2019
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum2Oct 1, 2019
Endplate acetylcholinesterase deficiency1Oct 1, 2019
Epilepsy, childhood absence 61Oct 1, 2019
Epilepsy, familial focal, with variable foci 11Aug 30, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation1Oct 1, 2019
Epileptic encephalopathy, early infantile, 421Oct 1, 2019
Failure to thrive2Sep 16, 2020
Familial hypertrophic cardiomyopathy 91Nov 9, 2017
Familial hypokalemia-hypomagnesemia4Aug 30, 2020
Finnish congenital nephrotic syndrome2Aug 30, 2020
Floating-Harbor syndrome1Aug 30, 2020
GRIK2-related neurodevelopmental disorder1Oct 1, 2019
Gaze palsy, familial horizontal, with progressive scoliosis 11Oct 1, 2019
Generalized arterial calcification of infancy 22Oct 1, 2019
Global proximal tubulopathy2Sep 16, 2020
Glomerulopathy with fibronectin deposits 21Aug 30, 2020
HSD10 disease1Oct 1, 2019
HUWE1-related neurodevelopmental disorder1Oct 1, 2019
Hirschsprung disease 11Oct 1, 2019
Holocarboxylase synthetase deficiency1Nov 1, 2016
Holt-Oram syndrome1Nov 1, 2016
Hypercalcemia, infantile, 21Aug 30, 2020
Hypertrichotic osteochondrodysplasia Cantu type1Nov 1, 2016
Hypocalciuric hypercalcemia, familial, type 11Aug 30, 2020
Hypomyelination with brainstem and spinal cord involvement and leg spasticity2Nov 9, 2017
Hypoparathyroidism, deafness, renal disease syndrome3Aug 30, 2020
Imerslund-Gräsbeck syndrome 12Aug 30, 2020
Intellectual disability, X-linked syndromic, Turner type1Oct 1, 2019
Interstitial nephritis, karyomegalic2Aug 30, 2020
Joubert syndrome 171Oct 1, 2019
Joubert syndrome 231Nov 1, 2016
Joubert syndrome 62Aug 30, 2020
Joubert syndrome 91Oct 1, 2019
KBG syndrome1Oct 1, 2019
Kabuki syndrome 13Oct 1, 2019
Leigh syndrome2Aug 30, 2020
Lethal congenital contracture syndrome 111Oct 1, 2019
Mandibulofacial dysostosis-microcephaly syndrome1Nov 9, 2017
Megalocornea1Nov 1, 2016
Menkes kinky-hair syndrome1Oct 1, 2019
Mental retardation, X-linked 99, syndromic, female-restricted1Nov 9, 2017
Mental retardation, autosomal dominant 151Oct 1, 2019
Mental retardation, autosomal dominant 271Oct 1, 2019
Mental retardation, autosomal recessive 582Oct 1, 2019
Microphthalmia, syndromic 121Oct 1, 2019
Mitochondrial DNA depletion syndrome 22Oct 1, 2019
Mitochondrial complex 1 deficiency, nuclear type 161Oct 1, 2019
Mitochondrial complex 1 deficiency, nuclear type 192Oct 1, 2019
Mitochondrial myopathy-lactic acidosis-deafness syndrome1Oct 1, 2019
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency5Oct 1, 2019
Moyamoya disease 21Oct 1, 2019
Multiple congenital anomalies-hypotonia-seizures syndrome 11Aug 30, 2020
Multiple gastrointestinal atresias3Nov 1, 2016
Multiple mitochondrial dysfunctions syndrome 21Oct 1, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11Oct 1, 2019
Mycobacterial and viral infections, susceptibility to, autosomal recessive1Nov 1, 2016
Nephrogenic diabetes insipidus, X-linked2Aug 30, 2020
Nephronophthisis 11Aug 30, 2020
Nephrotic syndrome1Oct 1, 2019
Netherton syndrome2Oct 1, 2019
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia2Oct 1, 2019
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Oct 1, 2019
Neurofibromatosis, type 11Oct 1, 2019
Noonan syndrome 13Oct 1, 2019
Noonan syndrome 82Oct 1, 2019
Osteogenesis imperfecta, recessive perinatal lethal1Nov 1, 2016
PIGG-related neurodevelopmental disorder1Oct 1, 2019
PPP1R21-related neurodevelopmental disorder1Oct 1, 2019
PTPN23-related neurodevelopmental disorder1Oct 1, 2019
Pearson syndrome2Jun 12, 2019
Pelger-Huët anomaly1Nov 1, 2016
Phenylketonuria2Oct 1, 2019
Polycystic kidney disease 21Aug 30, 2020
Polycystic kidney disease, adult type14Aug 30, 2020
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1Oct 1, 2019
Pontocerebellar hypoplasia, type 92Aug 30, 2020
Premature ovarian insufficiency2Sep 16, 2020
Primary hyperoxaluria, type I1Jun 9, 2020
Primary hypomagnesemia1Aug 30, 2020
Progressive sclerosing poliodystrophy1Oct 1, 2019
Propionic acidemia1Oct 1, 2019
Recessive dystrophic epidermolysis bullosa2Nov 9, 2017
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Oct 1, 2019
Renal cysts and diabetes syndrome5Aug 30, 2020
Renal tubular acidosis with progressive nerve deafness1Aug 30, 2020
Rett syndrome1Nov 9, 2017
Rett syndrome, congenital variant1Nov 1, 2016
Schimke immuno-osseous dysplasia1Oct 1, 2019
Severe X-linked myotubular myopathy1Nov 1, 2016
Severe myoclonic epilepsy in infancy2Oct 1, 2019
Short-rib thoracic dysplasia 10 with or without polydactyly2Aug 30, 2020
Short-rib thoracic dysplasia 3 with or without polydactyly2Nov 1, 2016
Sialidosis type 21Oct 1, 2019
Sotos syndrome 12Nov 9, 2017
Spherocytosis type 21Oct 1, 2019
Spinal muscular atrophy, distal, autosomal recessive, 12Oct 1, 2019
Split hand1Aug 15, 2019
Spongy degeneration of central nervous system1Oct 1, 2019
Stickler syndrome type 11Aug 15, 2019
Surfactant metabolism dysfunction, pulmonary, 31Oct 1, 2019
Syndromic X-linked mental retardation, Cabezas type1Oct 1, 2019
Tuberous sclerosis 11Aug 30, 2020
Usher syndrome, type 2A3Aug 30, 2020
Visceral myopathy1Nov 1, 2016
Waardenburg syndrome type 2A1Aug 15, 2019
Wiedemann-Steiner syndrome1Nov 9, 2017
ZTTK syndrome1Aug 15, 2019
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency2Oct 1, 2019
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