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Genome Diagnostics Laboratory (The Hospital for Sick Children), SKGD

General information

Genome Diagnostics Laboratory, SKGD
The Hospital for Sick Children
555 University Ave
Toronto
Ontario
Canada - M5G 1X8
http://www.sickkids.ca/dplm
Organization ID: 1043

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 6941

Gene

GeneSubmissionsLast Updated
ADA245Jul 7, 2022
ADAMTS273Aug 23, 2022
ALDH18A127Mar 15, 2022
ALPL29Aug 23, 2022
ALS239Mar 15, 2022
AP3B137Jul 7, 2022
AP4B125Mar 15, 2022
AP4B1-AS119Mar 15, 2022
AP4E130Mar 15, 2022
AP4M125Mar 15, 2022
AP4S16Mar 15, 2022
AP5Z1104Mar 15, 2022
ARSL15Aug 23, 2022
ATL118Mar 15, 2022
ATP7A26Aug 23, 2022
B4GALT714Aug 23, 2022
BLOC1S62Jul 7, 2022
BMP125Aug 23, 2022
BRAF48Jan 11, 2022
BSCL222Mar 15, 2022
C19orf1210Mar 15, 2022
CARD14141Jul 7, 2022
CBL66Jan 11, 2022
CBS12Aug 23, 2022
CD276Jul 7, 2022
CD27-AS16Jul 7, 2022
CFTR168May 10, 2022
CFTR-AS118May 10, 2022
CHST147Aug 23, 2022
CLCN713Aug 23, 2022
CNNM25Mar 15, 2022
COL11A124Aug 23, 2022
COL11A228Aug 23, 2022
COL1A1179Aug 23, 2022
COL1A286Aug 23, 2022
COL2A151Aug 23, 2022
COL3A156Aug 23, 2022
COL5A1120Aug 23, 2022
COL5A255Aug 23, 2022
COL9A115Aug 23, 2022
COL9A221Aug 23, 2022
COL9A329Aug 23, 2022
COMP13Aug 23, 2022
CRTAP17Aug 23, 2022
CYP21A21Aug 23, 2022
CYP2U129Mar 15, 2022
CYP2U1-AS17Mar 15, 2022
CYP7B125Mar 15, 2022
DCLRE1B2Mar 15, 2022
DDHD128Mar 15, 2022
DDHD225Mar 15, 2022
DDR29Aug 23, 2022
DSE16Aug 23, 2022
DYM8Aug 23, 2022
DYM-AS11Aug 23, 2022
EBP4Aug 23, 2022
EIF2AK312Aug 23, 2022
ELANE38Jul 7, 2022
ENTPD121Mar 15, 2022
ENTPD1-AS121Mar 15, 2022
ERLIN110Mar 15, 2022
ERLIN28Mar 15, 2022
FA2H25Mar 15, 2022
FANCI4Mar 15, 2022
FBN141Aug 23, 2022
FBN2164Aug 23, 2022
FGFR324Aug 23, 2022
FKBP1018Aug 23, 2022
FKBP147Aug 23, 2022
FKBP14-AS15Aug 23, 2022
FLNB61Aug 23, 2022
FRA11B2Jan 11, 2022
GBA225Mar 15, 2022
GJC219Mar 15, 2022
HNRNPUL2-BSCL222Mar 15, 2022
HRAS24Jan 11, 2022
HSPD121Mar 15, 2022
HSPG2101Aug 23, 2022
IFITM510Aug 23, 2022
IFT12222Aug 23, 2022
IFT434Aug 23, 2022
IFT8015Aug 23, 2022
IL1RN25Jul 7, 2022
IL36RN22Jul 7, 2022
INCA120Mar 15, 2022
ITK17Jul 7, 2022
KIF1A93Sep 15, 2022
KIF1C62Mar 15, 2022
KIF1C-AS11Mar 15, 2022
KIF5A38Mar 15, 2022
KRAS12Jan 11, 2022
L1CAM27Sep 15, 2022
LBR16Aug 23, 2022
LDLRAD28Aug 23, 2022
LIFR27Aug 23, 2022
LOC10144820226Aug 23, 2022
LOC1019283712Aug 23, 2022
LOC10678080317Aug 23, 2022
LOC1076524452Aug 23, 2022
LOC1080218462Aug 23, 2022
LOC11167447225May 10, 2022
LOC1116744756May 10, 2022
LOC1116744778May 10, 2022
LOC1118119653Feb 11, 2021
LOC1125336725Jul 7, 2022
LOC1136641064May 10, 2022
LOC1137882691Aug 23, 2022
LOC1235228036Jul 7, 2022
LPIN283Jul 7, 2022
LRP578Aug 23, 2022
LRRC5624Jan 11, 2022
LYST84Jul 7, 2022
LZTR143Jan 11, 2022
MAP2K123Jan 11, 2022
MAP2K234Jan 11, 2022
MATN312Aug 23, 2022
MBTPS24Aug 23, 2022
MCAM1Jan 11, 2022
MCOLN13Mar 15, 2022
MEFV115Jul 7, 2022
MILR114Mar 15, 2022
MIR67661Mar 15, 2022
MMAB2Jul 7, 2022
MTRFR11Mar 15, 2022
MVK38Jul 7, 2022
NEK119Aug 23, 2022
NF1396Feb 11, 2021
NIPA115Mar 15, 2022
NKX3-211Aug 23, 2022
NLRC471Jul 7, 2022
NLRP12137Jul 7, 2022
NLRP373Jul 7, 2022
NOD2124Jul 7, 2022
NRAS11Jan 11, 2022
NSDHL7Aug 23, 2022
NT5C29Mar 15, 2022
OFD12Aug 23, 2022
P3H128Aug 23, 2022
PEX76Aug 23, 2022
PGAP131Mar 15, 2022
PLEKHM11Aug 23, 2022
PLOD135Aug 23, 2022
PLOD217Aug 23, 2022
PLP15Mar 15, 2022
PLS37Aug 23, 2022
PNPLA654Mar 15, 2022
POLG63Mar 15, 2022
POLG214Mar 15, 2022
PPIB7Aug 23, 2022
PRDM531Aug 23, 2022
PRF146Jul 7, 2022
PSMB830Jul 7, 2022
PSTPIP172Sep 15, 2022
PTH1R13Aug 23, 2022
PTPN1163Jan 11, 2022
RAB27A29Jul 7, 2022
RAB9B5Mar 15, 2022
RAF135Jan 11, 2022
REEP118Mar 15, 2022
RIT121Jan 11, 2022
RTN219Mar 15, 2022
SACS154Mar 15, 2022
SCNN1A1Jul 7, 2022
SERPINF119Aug 23, 2022
SERPINH18Aug 23, 2022
SETX69Mar 15, 2022
SGSH50Jul 7, 2022
SH2D1A6Jul 7, 2022
SHOC223Jan 11, 2022
SHOX7Aug 23, 2022
SLC16A29Mar 15, 2022
SLC26A217Aug 23, 2022
SLC30A61Jul 7, 2022
SLC33A111Mar 15, 2022
SLC35D16Aug 23, 2022
SLC39A1322Aug 23, 2022
SLC7A717Jul 7, 2022
SMAD319Aug 23, 2022
SNAPC54Jan 11, 2022
SNX222Aug 23, 2022
SOS168Jan 11, 2022
SOS226Jan 11, 2022
SOX913Aug 23, 2022
SP79Aug 23, 2022
SPARC8Aug 23, 2022
SPART18Mar 15, 2022
SPAST72Mar 15, 2022
SPG11122Mar 15, 2022
SPG2118Mar 15, 2022
SPG768Mar 15, 2022
SPRED143Jan 11, 2022
STING143Jul 7, 2022
STX1111Jul 7, 2022
STXBP236Jul 7, 2022
TCIRG13Aug 23, 2022
TECPR272Mar 15, 2022
TGFB215Aug 23, 2022
TGFBR119Aug 23, 2022
TGFBR217Aug 23, 2022
TMEM38B8Aug 23, 2022
TNFRSF11A3Aug 23, 2022
TNFRSF11B1Aug 23, 2022
TNFRSF1A45Sep 15, 2022
TNFSF116Aug 23, 2022
TNXB210Aug 23, 2022
TRAPPC22Aug 23, 2022
TRIM59-IFT8015Aug 23, 2022
TRIP1147Aug 23, 2022
TRPV426Aug 23, 2022
TTC21B24Aug 23, 2022
TTC21B-AS12Aug 23, 2022
TWNK20Mar 15, 2022
UNC13D79Jul 7, 2022
VPS37A16Mar 15, 2022
WASHC543Mar 15, 2022
WASHC5-AS14Mar 15, 2022
WDR1924Aug 23, 2022
WDR3513Aug 23, 2022
WDR35-DT4Aug 23, 2022
WNT110Aug 23, 2022
XIAP8Jul 7, 2022
XYLT233Aug 23, 2022
ZFYVE26115Mar 15, 2022
ZNF469217Aug 23, 2022

Testing in GTR

Disease nameNumber of tests
Achondroplasia1 test
Acrocephalosyndactyly type I1 test
Angelman syndrome1 test
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with I factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Beckwith-Wiedemann syndrome1 test
Bloom syndrome1 test
Branchiootorenal syndrome 11 test
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II1 test
CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II1 test
CHARGE association1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Charlevoix-Saguenay spastic ataxia1 test
Congenital muscular dystrophy1 test
Cystic fibrosis1 test
DFNA 3 Nonsyndromic Hearing Loss and Deafness1 test
Dilated cardiomyopathy 3B1 test
Dopamine beta-hydroxylase deficiency1 test
FRAXE1 test
Fabry disease1 test
Familial dysautonomia1 test
Fanconi anemia complementation group C1 test
Fibrous dysplasia of jaw1 test
Finnish congenital nephrotic syndrome1 test
Focal segmental glomerulosclerosis1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 31 test
Fragile X syndrome1 test
Gaucher disease1 test
Hecht syndrome1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 12 tests
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Hereditary spastic paraplegia2 tests
Hereditary spastic paraplegia 111 test
Hereditary spastic paraplegia 151 test
Hereditary spastic paraplegia 391 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 71 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Kennedy disease1 test
Li-Fraumeni syndrome1 test
Mast syndrome1 test
Mesangiocapillary glomerulonephritis, type II1 test
Mucolipidosis type IV1 test
Mucopolysaccharidosis, MPS-II1 test
Muenke syndrome1 test
Muscle eye brain disease1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
Muscular dystrophy-dystroglycanopathy type B51 test
Nephrotic syndrome, type 21 test
Neuronal ceroid lipofuscinosis1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Pendred syndrome1 test
Pfeiffer syndrome1 test
Prader-Willi syndrome1 test
Qualitative or quantitative defects of dystrophin1 test
Saethre-Chotzen syndrome1 test
Shwachman-Diamond syndrome 11 test
Silver-Russell syndrome 11 test
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Simpson-Golabi-Behmel syndrome type 11 test
Sphingomyelin/cholesterol lipidosis1 test
Spinal muscular atrophy2 tests
Spongy degeneration of central nervous system1 test
Tay-Sachs disease1 test
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
Troyer syndrome1 test
Velocardiofacial syndrome1 test
X-linked mixed hearing loss with perilymphatic gusher1 test
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