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Hadassah Hebrew University Medical Center, HMC

General information

Hadassah Hebrew University Medical Center, HMC

Ein Kerem
Jerusalem
Israel - 91120

Organization ID: 505577

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 260

Gene

GeneSubmissionsLast Updated
ABCA121Nov 10, 2020
ABCA41Aug 11, 2020
ABCB111Nov 10, 2020
ACAN1Nov 10, 2021
ACOX11Nov 10, 2020
ACSF31Aug 11, 2020
ADAT31Oct 29, 2023
ADPRS2Oct 29, 2023
AGK1Nov 10, 2020
AGTPBP13Jan 15, 2019
AICDA1Nov 10, 2020
ALDH3A21Nov 10, 2020
ALDH5A11Nov 10, 2020
ALG81Jun 1, 2022
ALMS11Nov 10, 2020
ALS22Nov 10, 2020
AMOTL11Apr 26, 2020
ANO51Nov 10, 2020
ANTXR21Nov 10, 2020
AP1S12Nov 10, 2020
AP4M11Nov 10, 2020
ATAD3A13May 14, 2021
ATM1Nov 10, 2020
ATP7B3Apr 21, 2021
ATP8B12Nov 10, 2020
ATP8B1-AS12Nov 10, 2020
ATXN7L35May 30, 2024
BBS71Nov 10, 2020
BLTP11Nov 10, 2020
BRAT11Jun 6, 2021
BTD1Aug 11, 2020
C11orf651Nov 10, 2020
C12orf601Aug 11, 2020
CA21Nov 10, 2020
CAPN151Apr 26, 2020
CBS1Oct 6, 2020
CDON1Jul 24, 2019
CDX21Apr 27, 2024
CEP2901Nov 10, 2020
CERS31Nov 10, 2020
CKAP2L1Nov 10, 2020
CLCN72Jun 6, 2021
CNTNAP21Nov 10, 2020
COL7A11Nov 10, 2020
CRYBA41Aug 11, 2020
CRYBB11Aug 11, 2020
CTNS2Nov 10, 2020
CTNS-AS12Nov 10, 2020
CYP2U11Nov 10, 2020
CYP4F221Aug 11, 2020
DCAF171Nov 10, 2020
DCDC21Nov 10, 2020
DHCR72Aug 11, 2020
DLD1Oct 29, 2023
DNAAF111Oct 29, 2023
DNAAF41Nov 10, 2020
DNAAF4-CCPG11Nov 10, 2020
DNAH111Nov 10, 2020
DNAI21Nov 10, 2020
DOCK71Nov 10, 2020
DOK72Nov 10, 2020
ECHS11Jun 1, 2022
EDRF11Oct 29, 2023
EPG51Nov 10, 2020
ERC11Nov 10, 2020
ERCC21Oct 29, 2023
ESCO21Nov 10, 2020
EVX21Jun 10, 2024
EXOSC81Jun 6, 2021
FANCL1Oct 29, 2023
FAT11Nov 10, 2020
FBXL31Jul 6, 2021
FBXL41Nov 10, 2020
FKBP101Jun 6, 2021
FMNL21Feb 25, 2021
FMO31Nov 10, 2021
FOXC21Apr 16, 2020
FOXC2-AS11Apr 16, 2020
GAA1Nov 10, 2020
GAS81Nov 10, 2020
GBA12Oct 6, 2020
GIMAP61Apr 26, 2020
GLDN1Apr 16, 2020
GLI21Jun 6, 2021
GNE1Oct 29, 2023
GNRHR2Oct 6, 2020
GORAB1Nov 10, 2020
GORAB-AS11Nov 10, 2020
GPD11Nov 10, 2020
GPIHBP11Aug 11, 2020
GUCY2C1Aug 11, 2020
GUCY2C-AS11Aug 11, 2020
HAAO1Nov 10, 2020
HERC21Nov 10, 2020
IL2RG1Jun 6, 2021
INPP11Feb 27, 2019
INPP4A1Nov 10, 2020
IRS11Nov 10, 2020
KAT2A1Oct 29, 2023
KIAA09306May 3, 2023
KIF26A1Oct 29, 2023
KLHL401Nov 10, 2020
LAMA22Oct 29, 2023
LAMP31Oct 29, 2023
LARP71Nov 10, 2020
LARS11May 12, 2023
LCK1Nov 10, 2020
LOC1027240581Jul 11, 2023
LOC1066279812Oct 6, 2020
LOC1268601251Nov 10, 2020
LOC1268622641Oct 6, 2020
LOC1299352521Feb 27, 2019
LOC1300095811Jun 6, 2021
LOC1300661271Apr 27, 2024
LRBA2Nov 10, 2020
LRRC321Jun 19, 2018
LSS2May 3, 2023
LYST1Nov 10, 2020
MADD1Dec 31, 2020
MAPRE21May 31, 2019
MARS12Mar 16, 2018
MEFV3Oct 6, 2020
MFSD2A1Mar 25, 2018
MPDZ1Nov 10, 2020
MTA31Nov 10, 2020
MTMR21Nov 10, 2020
MVP-DT1Jun 16, 2021
MYOM11Nov 10, 2020
NADK21Aug 11, 2020
NBEAL21Nov 10, 2020
NDC11Feb 27, 2019
NEK91Mar 1, 2019
NFU11Nov 10, 2020
NGLY11Nov 10, 2020
NIN1Nov 10, 2020
NKX2-61Nov 10, 2020
NNT1Aug 11, 2020
NOTCH11Jan 8, 2020
NR1H41Nov 10, 2020
NR2E32Apr 21, 2021
NSUN21Nov 10, 2020
NUP2141Apr 23, 2018
NUSAP11Jun 17, 2022
OFD11Apr 24, 2023
OTOG1Aug 11, 2020
PAGR11Jun 16, 2021
PARK71Nov 10, 2020
PARP101Nov 10, 2020
PAX71Nov 10, 2020
PCYT21Oct 29, 2023
PDE10A1Nov 10, 2020
PEDS11Apr 27, 2024
PEDS1-UBE2V11Apr 27, 2024
PEPD1Nov 10, 2020
PEX61Nov 10, 2020
PHF61Jan 9, 2020
PIEZO11Apr 16, 2020
PKHD13Jun 1, 2022
PLCE11Nov 10, 2020
PNKP1Oct 29, 2023
PNPLA81Nov 10, 2020
POLR1C1Oct 29, 2023
POLR2F1Jan 8, 2020
PRKN1Mar 16, 2021
PROKR11Apr 24, 2023
PYGM1Nov 10, 2020
RASL121Nov 10, 2020
RBL21Feb 5, 2022
RECQL1Jun 26, 2020
RECQL41Nov 10, 2020
REEP21Nov 10, 2020
RET1Apr 21, 2021
RIN21Nov 10, 2020
RMND11Nov 10, 2020
RNF2071Nov 10, 2020
RPAIN1Oct 29, 2023
SACS1Nov 10, 2020
SCAMP41Oct 29, 2023
SCN1A1Jul 11, 2023
SCNN1G1Nov 10, 2020
SEMA3C1Apr 27, 2024
SERAC11Nov 10, 2020
SGCB1Oct 29, 2023
SGSM31May 3, 2023
SKIC31Nov 10, 2020
SLC25A121Nov 10, 2020
SLC25A381Nov 10, 2020
SLC26A31Nov 10, 2020
SLC34A31Aug 11, 2020
SLC44A11Nov 10, 2020
SLC51B1Nov 10, 2020
SLC5A21Nov 10, 2020
SMARCAL11Nov 10, 2020
SMARCD21Nov 10, 2020
SNAP291Nov 10, 2020
SNX101Nov 10, 2020
SOD11Aug 6, 2021
SOX101Jan 8, 2020
SPG111Nov 10, 2020
SRD5A31Nov 10, 2020
TBCE1Nov 10, 2020
TBCK1Nov 10, 2020
TCIRG12Nov 10, 2020
TENM41Feb 25, 2019
TLN11Jun 12, 2022
TMEM2371Nov 10, 2020
TNNI31Jun 18, 2020
TNNT11Nov 10, 2020
TOR1AIP11Nov 10, 2020
TRAPPC121Nov 10, 2020
TRPV11Oct 27, 2021
TTC81Nov 10, 2020
TYR3Mar 16, 2021
UNC13D1Nov 10, 2020
USP27X8Apr 20, 2023
VARS11Oct 29, 2023
VPS13B1Nov 10, 2020
WBP45May 4, 2023
WWOX1Nov 10, 2020
XPC1Nov 10, 2020
XYLT21Nov 10, 2020
ZEB13Jul 11, 2023

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Nov 10, 2020
ALG8 congenital disorder of glycosylation1Jun 1, 2022
Abnormal facial shape1Jun 26, 2020
Abnormal pinna morphology1Apr 26, 2020
Abnormality of the liver1Nov 10, 2020
Acyl-CoA oxidase deficiency1Nov 10, 2020
Alkuraya-Kucinskas syndrome1Nov 10, 2020
Alopecia-intellectual disability syndrome 42May 3, 2023
Alstrom syndrome1Nov 10, 2020
Alveolar rhabdomyosarcoma1Nov 10, 2020
Amyotrophic lateral sclerosis type 2, juvenile2Nov 10, 2020
Amyotrophic lateral sclerosis type 51Nov 10, 2020
Aplasia/Hypoplasia of the cerebellum3Jan 15, 2019
Ataxia - oculomotor apraxia type 41Oct 29, 2023
Ataxia-telangiectasia syndrome1Nov 10, 2020
Autosomal recessive Kenny-Caffey syndrome1Nov 10, 2020
Autosomal recessive congenital ichthyosis 4B1Nov 10, 2020
Autosomal recessive congenital ichthyosis 51Aug 11, 2020
Autosomal recessive congenital ichthyosis 91Nov 10, 2020
Autosomal recessive early-onset Parkinson disease 71Nov 10, 2020
Autosomal recessive hypophosphatemic bone disease1Aug 11, 2020
Autosomal recessive juvenile Parkinson disease 21Mar 16, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2E1Oct 29, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2Y1Nov 10, 2020
Autosomal recessive nonsyndromic hearing loss 18B1Aug 11, 2020
Autosomal recessive nonsyndromic hearing loss 661Nov 10, 2020
Autosomal recessive osteopetrosis 12Nov 10, 2020
Autosomal recessive osteopetrosis 42Jun 6, 2021
Autosomal recessive osteopetrosis 81Nov 10, 2020
Autosomal recessive polycystic kidney disease2Nov 24, 2015
Autosomal recessive pseudohypoaldosteronism type 11Nov 10, 2020
Autosomal recessive spinocerebellar ataxia 121Nov 10, 2020
Baller-Gerold syndrome1Nov 10, 2020
Bardet-Biedl syndrome 141Nov 10, 2020
Bardet-Biedl syndrome 71Nov 10, 2020
Bardet-Biedl syndrome 81Nov 10, 2020
Biotinidase deficiency1Aug 11, 2020
Borjeson-Forssman-Lehmann syndrome1Jan 9, 2020
Bronchiectasis with or without elevated sweat chloride 31Nov 10, 2020
Brunet-Wagner neurodevelopmental syndrome1Feb 5, 2022
CEDNIK syndrome1Nov 10, 2020
Capillary leak syndrome1Jun 12, 2022
Cataract 171Aug 11, 2020
Charcot-Marie-Tooth disease axonal type 2X1Nov 10, 2020
Charcot-Marie-Tooth disease type 4B11Nov 10, 2020
Charlevoix-Saguenay spastic ataxia1Nov 10, 2020
Cholestasis1Nov 10, 2020
Cholestasis, intrahepatic, of pregnancy, 11Nov 10, 2020
Cholestasis, progressive familial intrahepatic, 51Nov 10, 2020
Chédiak-Higashi syndrome1Nov 10, 2020
Cleft lip/palate1Apr 26, 2020
Cleft palate5Mar 1, 2019
Cohen syndrome1Nov 10, 2020
Combined immunodeficiency due to LRBA deficiency2Nov 10, 2020
Combined malonic and methylmalonic acidemia1Aug 11, 2020
Combined oxidative phosphorylation defect type 111Nov 10, 2020
Cone-rod dystrophy 31Aug 11, 2020
Congenital disorder of deglycosylation1Nov 10, 2020
Congenital heart disease1Apr 26, 2020
Congenital myasthenic syndrome 102Nov 10, 2020
Congenital myasthenic syndrome 121Nov 10, 2020
Congenital ocular coloboma2Apr 26, 2020
Congenital secretory diarrhea, chloride type1Nov 10, 2020
Conotruncal heart malformations1Nov 10, 2020
Corneal dystrophy2Jul 11, 2023
Corneal dystrophy, Fuchs endothelial, 61Jun 1, 2022
Cortical dysplasia, complex, with other brain malformations 111Oct 29, 2023
Cortical dysplasia-focal epilepsy syndrome1Nov 10, 2020
Crohn disease1Feb 25, 2021
Deeah syndrome1Dec 31, 2020
Developmental and epileptic encephalopathy, 231Nov 10, 2020
Developmental and epileptic encephalopathy, 281Nov 10, 2020
Developmental and epileptic encephalopathy, 391Nov 10, 2020
Developmental delay1Nov 10, 2020
Developmental delay with autism spectrum disorder and gait instability1Nov 10, 2020
Diarrhea1Nov 10, 2020
Dilated cardiomyopathy 2A1Jun 18, 2020
Distichiasis-lymphedema syndrome1Apr 16, 2020
Dyslexia, susceptibility to, 11Nov 10, 2020
Dysmorphism1Apr 26, 2020
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1Nov 10, 2020
Enhanced S-cone syndrome2Apr 21, 2021
Failure to thrive1Apr 26, 2020
Familial Mediterranean fever3Oct 6, 2020
Familial cancer of breast1Nov 10, 2020
Familial hemophagocytic lymphohistiocytosis 31Nov 10, 2020
Familial renal glucosuria1Nov 10, 2020
Fanconi anemia complementation group L1Oct 29, 2023
Filippi syndrome1Nov 10, 2020
GNE myopathy1Oct 29, 2023
Gaucher disease type I2Oct 6, 2020
Generalized dominant dystrophic epidermolysis bullosa1Nov 10, 2020
Geroderma osteodysplastica1Nov 10, 2020
Global developmental delay5Feb 27, 2019
Glucocorticoid deficiency 41Aug 11, 2020
Glycogen storage disease, type II1Nov 10, 2020
Glycogen storage disease, type V1Nov 10, 2020
Gnathodiaphyseal dysplasia1Nov 10, 2020
Gray platelet syndrome1Nov 10, 2020
Harel-Yoon syndrome13May 14, 2021
Hearing loss1Apr 26, 2020
Heimler syndrome 21Nov 10, 2020
Hereditary spastic paraplegia 111Nov 10, 2020
Hereditary spastic paraplegia 501Nov 10, 2020
Hereditary spastic paraplegia 561Nov 10, 2020
Hereditary spastic paraplegia 721Nov 10, 2020
Homocystinuria1Oct 6, 2020
Horseshoe kidney1Apr 26, 2020
Hyaline fibromatosis syndrome1Nov 10, 2020
Hydrocephalus, nonsyndromic, autosomal recessive 21Nov 10, 2020
Hyper-IgM syndrome type 21Nov 10, 2020
Hyperlipoproteinemia, type 1D1Aug 11, 2020
Hypertelorism1Apr 26, 2020
Hypoglycemia1Nov 10, 2020
Hypogonadotropic hypogonadism 7 with or without anosmia2Oct 6, 2020
Hypomyelinating leukodystrophy 111Oct 29, 2023
Hypoparathyroidism-retardation-dysmorphism syndrome1Nov 10, 2020
Hypoplastic left heart syndrome1Jan 8, 2020
Hypotonia1Nov 10, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Nov 10, 2020
Hypotrichosis 131Nov 10, 2020
Infantile liver failure syndrome 11May 12, 2023
Infantile-onset ascending hereditary spastic paralysis2Nov 10, 2020
Infantile-onset generalized dyskinesia with orofacial involvement1Nov 10, 2020
Intellectual disability, X-linked 1058Apr 20, 2023
Intellectual disability, autosomal recessive 51Nov 10, 2020
Intellectual disability, short stature, facial anomalies, and joint dislocations1Jul 6, 2021
Intellectual disability-strabismus syndrome1Oct 29, 2023
Isolated neonatal sclerosing cholangitis1Nov 10, 2020
Joubert syndrome 141Nov 10, 2020
Joubert syndrome 51Nov 10, 2020
Juvenile nephropathic cystinosis2Nov 10, 2020
Juvenile primary lateral sclerosis2Nov 10, 2020
Kahrizi syndrome1Nov 10, 2020
Leber congenital amaurosis 101Nov 10, 2020
Lethal congenital contracture syndrome 111Apr 16, 2020
Liddle syndrome 21Nov 10, 2020
Long QT syndrome1Nov 10, 2020
Long fingers1Apr 26, 2020
Lymphatic malformation 61Apr 16, 2020
MEDNIK syndrome2Nov 10, 2020
Macrocephaly, dysmorphic facies, and psychomotor retardation1Nov 10, 2020
Malignant tumor of esophagus1Nov 10, 2020
Meckel syndrome, type 41Nov 10, 2020
Meconium ileus1Aug 11, 2020
Merosin deficient congenital muscular dystrophy1Nov 10, 2020
Microcephalic primordial dwarfism, Alazami type1Nov 10, 2020
Microcephaly2Nov 10, 2020
Microcephaly 15, primary, autosomal recessive1Mar 25, 2018
Microcephaly, seizures, and developmental delay1Jun 17, 2022
Mitochondrial DNA depletion syndrome 131Nov 10, 2020
Mitochondrial myopathy-lactic acidosis-deafness syndrome1Nov 10, 2020
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1Jun 1, 2022
Motor polyneuropathy1Jan 11, 2019
Multiple endocrine neoplasia, type 21Apr 21, 2021
Multiple mitochondrial dysfunctions syndrome 11Nov 10, 2020
Muscular dystrophy, limb-girdle, autosomal recessive 232Oct 29, 2023
Myopathy, congenital, progressive, with scoliosis1Nov 10, 2020
Nemaline myopathy 51Nov 10, 2020
Nemaline myopathy 81Nov 10, 2020
Neonatal-onset encephalopathy with rigidity and seizures1Jun 6, 2021
Nephronophthisis 191Nov 10, 2020
Nephropathic cystinosis2Nov 10, 2020
Nephrotic syndrome, type 31Nov 10, 2020
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures2Oct 29, 2023
Neurodevelopmental disorder9May 4, 2023
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy1Oct 29, 2023
Nystagmus1Nov 10, 2020
Ocular cystinosis2Nov 10, 2020
Oculocutaneous albinism type 1B1Mar 16, 2021
Orofaciodigital syndrome I1Apr 24, 2023
Osteochondritis dissecans1Nov 10, 2021
Osteogenesis imperfecta type 111Jun 6, 2021
Osteopetrosis with renal tubular acidosis1Nov 10, 2020
Pectus excavatum1Nov 10, 2020
Polycystic kidney disease 41Jun 1, 2022
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1Jun 6, 2021
Primary Immune Deficiency1Apr 26, 2020
Primary ciliary dyskinesia 191Oct 29, 2023
Primary ciliary dyskinesia 251Nov 10, 2020
Primary ciliary dyskinesia 331Nov 10, 2020
Primary ciliary dyskinesia 71Nov 10, 2020
Primary ciliary dyskinesia 91Nov 10, 2020
Progressive encephalopathy with leukodystrophy due to DECR deficiency1Aug 11, 2020
Progressive familial intrahepatic cholestasis type 12Nov 10, 2020
Progressive familial intrahepatic cholestasis type 21Nov 10, 2020
Progressive microcephaly1Apr 23, 2018
Prolidase deficiency1Nov 10, 2020
Pyruvate dehydrogenase E3 deficiency1Oct 29, 2023
RIN2 syndrome1Nov 10, 2020
Rapadilino syndrome1Nov 10, 2020
Recessive dystrophic epidermolysis bullosa1Nov 10, 2020
Recurrent encephalopathy1Apr 23, 2018
Retinitis pigmentosa 191Aug 11, 2020
Retinitis pigmentosa 511Nov 10, 2020
Retinopathy4Mar 1, 2019
Roberts-SC phocomelia syndrome1Nov 10, 2020
Rothmund-Thomson syndrome type 21Nov 10, 2020
SGSM3-related intellectual disability1May 3, 2023
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES1Nov 10, 2020
SRD5A3-congenital disorder of glycosylation1Nov 10, 2020
Sacral dysplasia1Apr 26, 2020
Schimke immuno-osseous dysplasia1Nov 10, 2020
Seckel syndrome 71Nov 10, 2020
See cases13May 30, 2024
Sengers syndrome1Nov 10, 2020
Senior-Loken syndrome 61Nov 10, 2020
Severe combined immunodeficiency due to LCK deficiency1Nov 10, 2020
Severe early-childhood-onset retinal dystrophy1Aug 11, 2020
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency2Mar 16, 2018
Seziures1Apr 26, 2020
Short stature1Jun 26, 2020
Sideroblastic anemia 21Nov 10, 2020
Sjögren-Larsson syndrome1Nov 10, 2020
Skin creases, congenital symmetric circumferential, 21May 31, 2019
Smith-Lemli-Opitz syndrome2Aug 11, 2020
Spastic paraplegia 82, autosomal recessive1Oct 29, 2023
Spastic tetraplegia and axial hypotonia, progressive1Aug 6, 2021
Specific granule deficiency 21Nov 10, 2020
Spondylo-ocular syndrome1Nov 10, 2020
Striatal degeneration, autosomal dominant 21Nov 10, 2020
Succinate-semialdehyde dehydrogenase deficiency1Nov 10, 2020
Synpolydactyly type 11Jun 10, 2024
Tethered cord1Apr 26, 2020
Transient infantile hypertriglyceridemia and hepatosteatosis1Nov 10, 2020
Trichohepatoenteric syndrome 11Nov 10, 2020
Trimethylaminuria1Nov 10, 2021
Type 2 diabetes mellitus1Nov 10, 2020
Tyrosinase-negative oculocutaneous albinism2Oct 6, 2020
Vertebral, cardiac, renal, and limb defects syndrome 11Nov 10, 2020
Vici syndrome1Nov 10, 2020
Vitreoretinopathy1Jun 19, 2018
Waardenburg syndrome type 4C1Jan 8, 2020
Wilson disease3Apr 21, 2021
Woodhouse-Sakati syndrome1Nov 10, 2020
Wooly hair, autosomal recessive 31Nov 10, 2020
Xeroderma pigmentosum, group C1Nov 10, 2020
Xeroderma pigmentosum, group D1Oct 29, 2023
bilateral optic disc gliosis1Apr 26, 2020
imperforate anus with fistula1Apr 26, 2020
imperforated anus1Apr 26, 2020
lethal neurodevelopmental disorder1Jun 16, 2021
not provided5Jul 11, 2023
not specified2Jun 6, 2021
visual disturbance1Nov 10, 2020