Cavalleri Lab (Royal College of Surgeons in Ireland), CAV-LAB

General information

Cavalleri Lab, CAV-LAB
Royal College of Surgeons in Ireland
Dublin
Dublin
Ireland
http://pi.rcsi.ie/pi/gcavalleri/pi.asp
Organization ID: 506791

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 204

Gene

GeneSubmissionsLast Updated
ACTN41May 28, 2020
ALDH5A12Dec 11, 2019
ALG131Dec 11, 2019
ANKRD111Dec 11, 2019
ANLN1May 28, 2020
APOA12May 28, 2020
APOA1-AS1May 28, 2020
ARHGDIA1May 28, 2020
ATP2A11Dec 11, 2019
AXDND11May 28, 2020
CACNA1A1Dec 11, 2019
CEP551Nov 14, 2018
CFH2Jun 1, 2020
CFHR13May 28, 2020
CFHR52May 28, 2020
CFI1May 28, 2020
CHD23Dec 11, 2019
COL4A11May 28, 2020
COL4A33May 28, 2020
COL4A45Aug 24, 2020
DCX1Dec 11, 2019
DNM1L1Nov 14, 2018
DSTYK1May 28, 2020
DYNC1H11Dec 16, 2019
EHHADH2May 28, 2020
ETFB1May 28, 2020
FGFR31Dec 11, 2019
FN16May 28, 2020
FREM11May 28, 2020
GABRA11Dec 11, 2019
GANAB1May 28, 2020
GRIN2A1Dec 11, 2019
INF21May 28, 2020
KCNH21Dec 11, 2019
KCNQ11Dec 11, 2019
KPTN1Dec 11, 2019
LOC1027240582Dec 11, 2019
LOC10537104913Mar 6, 2020
LOC1073033401Dec 11, 2019
LOC1079822341May 28, 2020
LRP22Dec 11, 2019
MBD51Dec 11, 2019
MFF-DT3May 28, 2020
MIR6511B11Mar 6, 2020
MYH111Dec 11, 2019
NDE11Dec 11, 2019
NEDD4L1Dec 11, 2019
NONO1Dec 11, 2019
NPHS22May 28, 2020
OPHN11Dec 11, 2019
OPLAH1Nov 20, 2018
OSBPL71Nov 14, 2018
PAFAH1B11Dec 11, 2019
PKD1100Dec 14, 2020
PKD215Mar 6, 2020
PKHD13Aug 24, 2020
PPP3CA1Dec 11, 2019
PTEN1Dec 11, 2019
PURA1Dec 11, 2019
RORA1Dec 11, 2019
SCN1A3Dec 11, 2019
SLC9A3R11May 28, 2020
SMC1A1Dec 11, 2019
SOX171May 28, 2020
STXBP12Dec 11, 2019
SYNGAP11Dec 11, 2019
TBX181May 28, 2020
TSC11Dec 11, 2019
TSC21Mar 6, 2020
TTC21B1May 28, 2020
TUFM1Dec 11, 2019
UMOD1May 28, 2020
VHL1Dec 11, 2019
WT11May 28, 2020
YARS21Nov 14, 2018
ZNF4231May 28, 2020

Condition

NameSubmissionsLast Updated
15q22.2 deletion syndrome1Dec 11, 2019
16p11.2 deletion syndrome1Dec 11, 2019
Alport syndrome, autosomal recessive2Jun 1, 2020
Aortic aneurysm, familial thoracic 41Dec 11, 2019
Autosomal recessive polycystic kidney disease1Mar 6, 2020
Chronic kidney disease43Aug 24, 2020
Congenital muscular hypertrophy-cerebral syndrome1Dec 11, 2019
Developmental and epileptic encephalopathy 911Dec 11, 2019
Developmental and epileptic encephalopathy 943Dec 11, 2019
Donnai-Barrow syndrome2Dec 11, 2019
Early infantile epileptic encephalopathy 42Dec 11, 2019
Encephalopathy due to defective mitochondrial and peroxisomal fission 13Nov 14, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation1Dec 11, 2019
Epileptic encephalopathy, early infantile, 191Dec 11, 2019
Epileptic encephalopathy, early infantile, 361Dec 11, 2019
Epileptic encephalopathy, early infantile, 421Dec 11, 2019
Factor H deficiency1Jun 1, 2020
Generalized epilepsy with febrile seizures plus, type 23Dec 11, 2019
KBG syndrome1Dec 11, 2019
Lissencephaly due to LIS1 mutation1Dec 11, 2019
Lissencephaly, X-linked1Dec 11, 2019
Long QT syndrome 11Dec 11, 2019
Long QT syndrome 21Dec 11, 2019
Macrocephaly/autism syndrome1Dec 11, 2019
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1Dec 11, 2019
Mental retardation, X-linked, syndromic 341Dec 11, 2019
Mental retardation, autosomal dominant 11Dec 11, 2019
Mental retardation, autosomal dominant 131Dec 16, 2019
Mental retardation, autosomal dominant 311Dec 11, 2019
Mental retardation, autosomal dominant 51Dec 11, 2019
Mental retardation, autosomal recessive 411Dec 11, 2019
Muenke syndrome1Dec 11, 2019
Nocturnal frontal lobe epilepsy1Nov 20, 2018
Periventricular nodular heterotopia 71Dec 11, 2019
Polycystic kidney disease8Dec 14, 2020
Polycystic kidney disease 215Mar 6, 2020
Polycystic kidney disease, adult type92Mar 6, 2020
Succinate-semialdehyde dehydrogenase deficiency2Dec 11, 2019
Tuberous sclerosis 11Dec 11, 2019
Von Hippel-Lindau syndrome1Dec 11, 2019
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