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Sydney Genome Diagnostics (Children's Hospital Westmead)

General information

Sydney Genome Diagnostics
Children's Hospital Westmead
Hawkesbury Road and Darcy Rd
Westmeead
New South Wales
Australia - 2145
https://www.schn.health.nsw.gov.au/
Organization ID: 507757

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 314

Gene

GeneSubmissionsLast Updated
ACE1Sep 18, 2020
ACTN41Sep 18, 2020
ADAMTS133Sep 18, 2020
AGXT2Jul 22, 2022
AHI12Sep 18, 2020
ALMS13Sep 18, 2020
ANLN1Sep 18, 2020
AQP21Sep 18, 2020
AQP5-AS11Sep 18, 2020
ARHGAP241Sep 18, 2020
ATP6V1B12Sep 18, 2020
AXDND13Sep 18, 2020
BBS11Sep 18, 2020
BBS102Sep 18, 2020
BBS72Sep 18, 2020
BEST11Jul 22, 2022
BICC11Sep 18, 2020
C36Sep 18, 2020
CASR2Sep 18, 2020
CC2D2A2Sep 18, 2020
CD465Sep 18, 2020
CDKL51Jul 22, 2022
CEP1641Sep 18, 2020
CEP2903Jul 22, 2022
CFB1Sep 18, 2020
CFH12Sep 18, 2020
CFHR52Sep 18, 2020
CFI4Sep 18, 2020
CLCN55Sep 18, 2020
CLCNKB1Sep 18, 2020
COL4A311Jul 24, 2024
COL4A417Sep 18, 2020
COL4A544Sep 18, 2020
COQ8B2Sep 18, 2020
CPLANE14Sep 18, 2020
CTNS2Sep 18, 2020
CTNS-AS11Sep 18, 2020
CTXN2-AS11Sep 18, 2020
DGKE1Sep 18, 2020
DYNC2H11Sep 18, 2020
EVC1Sep 18, 2020
EYA11Sep 18, 2020
FRAS15Sep 18, 2020
FREM11Sep 18, 2020
FREM21Sep 18, 2020
GATA31Sep 18, 2020
GRHPR1Sep 18, 2020
HGSNAT1Jul 22, 2022
HNF1B3Sep 18, 2020
HNF4A1Sep 18, 2020
IFT1402Sep 18, 2020
IFT1722Sep 18, 2020
IMPG21Jul 22, 2022
INF22Sep 18, 2020
INVS3Sep 18, 2020
IQCB12Sep 18, 2020
ITGB41Sep 18, 2020
JAG12Sep 18, 2020
KIF71Sep 18, 2020
KMT2D1Sep 18, 2020
LAMB25Sep 18, 2020
LMX1B1Sep 18, 2020
LOC1053710461Sep 18, 2020
LOC1065017131Sep 18, 2020
LOC1122726001Sep 18, 2020
LOC1268070881Sep 18, 2020
LOC1268596901Sep 18, 2020
LOC1268621231Sep 18, 2020
LOC1268623612Sep 18, 2020
LOC1299324051Sep 18, 2020
MFF-DT11Jul 24, 2024
MKKS2Sep 18, 2020
MMACHC1Sep 18, 2020
MYH91Sep 18, 2020
MYO1E2Sep 18, 2020
NIPBL1Sep 18, 2020
NOC3L1Sep 18, 2020
NOTCH21Sep 18, 2020
NPHP12Sep 18, 2020
NPHP31Sep 18, 2020
NPHP3-ACAD111Sep 18, 2020
NPHP49Sep 18, 2020
NPHS110Sep 18, 2020
NPHS27Sep 18, 2020
NUP931Sep 18, 2020
OCRL1Sep 18, 2020
PAX22Sep 18, 2020
PCARE1Jul 22, 2022
PKHD18Sep 18, 2020
PLCE13Sep 18, 2020
PLG1Sep 18, 2020
REN1Sep 18, 2020
RET1Sep 18, 2020
RMND12Sep 18, 2020
ROBO21Sep 18, 2020
RS11Jul 22, 2022
RUNX21Sep 18, 2020
SALL12Sep 18, 2020
SCN2A1Jul 22, 2022
SCNN1A1Sep 18, 2020
SEC631Sep 18, 2020
SLC12A13Sep 18, 2020
SLC12A317Sep 18, 2020
SLC34A12Sep 18, 2020
SLC4A14Sep 18, 2020
SLC7A93Sep 18, 2020
SMARCAL12Sep 18, 2020
SPINK11Jul 22, 2022
SRGAP11Sep 18, 2020
THBD4Sep 18, 2020
TMEM672Sep 18, 2020
TRPC65Sep 18, 2020
TTC21B4Sep 18, 2020
TTC21B-AS12Sep 18, 2020
UMOD8Sep 18, 2020
WDR192Sep 18, 2020
WT11Sep 18, 2020
ZDHHC241Sep 18, 2020

Condition

NameSubmissionsLast Updated
Alport syndrome53Jul 24, 2024
Arteriohepatic dysplasia1Sep 18, 2020
Atypical hemolytic-uremic syndrome43Sep 18, 2020
Autosomal dominant hypocalcemia 11Sep 18, 2020
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia10Sep 18, 2020
Autosomal recessive bestrophinopathy1Jul 22, 2022
Autosomal recessive polycystic kidney disease9Sep 18, 2020
Bardet-Biedl syndrome8Sep 18, 2020
Bartter disease type 31Sep 18, 2020
Bartter disease type 4B1Sep 18, 2020
Bartter syndrome21Sep 18, 2020
Congenital anomaly of kidney and urinary tract21Sep 18, 2020
Cystinosis2Sep 18, 2020
Cystinuria3Sep 18, 2020
Dent disease type 13Sep 18, 2020
Dent disease type 21Sep 18, 2020
Familial hypokalemia-hypomagnesemia21Sep 18, 2020
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1Sep 18, 2020
Focal segmental glomerulosclerosis2Sep 18, 2020
Hematuria7Sep 18, 2020
Hypercalcemia, infantile, 21Sep 18, 2020
Joubert syndrome 51Jul 22, 2022
Juvenile retinoschisis1Jul 22, 2022
Meckel syndrome, type 32Sep 18, 2020
Melnick-Fraser syndrome1Sep 18, 2020
Nephrocalcinosis1Sep 18, 2020
Nephrogenic diabetes insipidus1Sep 18, 2020
Nephronophthisis39Sep 18, 2020
Nephrotic syndrome64Sep 18, 2020
Primary hyperoxaluria2Sep 18, 2020
Primary hyperoxaluria, type I1Jul 22, 2022
Pseudohypoaldosteronism1Sep 18, 2020
Renal tubular acidosis6Sep 18, 2020
Retinitis pigmentosa 541Jul 22, 2022
Retinitis pigmentosa 561Jul 22, 2022
Seizures, benign familial infantile, 31Jul 22, 2022
Synovial plica syndrome1Jul 22, 2022
Tropical pancreatitis1Jul 22, 2022