LOVD - Current system status

2018/07/16 12:20:22 EDT - Monday, July 16th 2018

Gene symbol Gene name Total variants Unique variants Patients
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 150 114 2
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 113 95 2
ACADM MCAD acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain 76 73 4
ACADVL VLCAD acyl-Coenzyme A dehydrogenase, very long chain 84 81 2
ACTB actin, beta 0 0 0
ADA adenosine deaminase 0 0 0
ADAM17 ADAM metallopeptidase domain 17 0 0 0
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 0 0 0
ADRBK2 adrenergic, beta, receptor kinase 2 0 0 0
AICDA activation-induced cytidine deaminase 0 0 0
AIRE autoimmune regulator 0 0 0
AK2 adenylate kinase 2 0 0 0
AP3B1 adaptor-related protein complex 3, beta 1 subunit 0 0 0
APOL1 apolipoprotein L, 1 0 0 0
ATM ataxia telangiectasia mutated 0 0 0
ATP8B1 ATPase, class I, type 8B, member 1 89 87 2
BLM Bloom syndrome, RecQ helicase-like 0 0 0
BLNK B-cell linker 0 0 0
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 0 0 0
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 0 0 0
BRCA2 breast cancer 2, early onset 0 0 0
BRIP1 BRCA1 interacting protein C-terminal helicase 1 0 0 0
BTK Bruton agammaglobulinemia tyrosine kinase 0 0 0
C1QA complement component 1, q subcomponent, A chain 0 0 0
C1QB complement component 1, q subcomponent, B chain 0 0 0
C1QC complement component 1, q subcomponent, C chain 0 0 0
C1R complement component 1, r subcomponent 0 0 0
C1S complement component 1, s subcomponent 0 0 0
C2 complement component 2 0 0 0
C3 complement component 3 0 0 0
C4A complement component 4A (Rodgers blood group) 0 0 0
C5 complement component 5 0 0 0
C6 complement component 6 0 0 0
C7 complement component 7 0 0 0
C8A complement component 8, alpha polypeptide 0 0 0
C8B complement component 8, beta polypeptide 0 0 0
C9 complement component 9 0 0 0
CARD11 caspase recruitment domain family, member 11 0 0 0
CARD14 caspase recruitment domain family, member 14 0 0 0
CARD8 caspase recruitment domain family, member 8 0 0 0
CARD9 caspase recruitment domain family, member 9 0 0 0
CASP10 caspase 10, apoptosis-related cysteine peptidase 14 8 2
CASP8 caspase 8, apoptosis-related cysteine peptidase 0 0 0
CD19 CD19 molecule 0 0 0
CD247 CD247 molecule 0 0 0
CD27 CD27 molecule 0 0 0
CD3D CD3d molecule, delta (CD3-TCR complex) 0 0 0
CD3E CD3e molecule, epsilon (CD3-TCR complex) 0 0 0
CD3G CD3g molecule, gamma (CD3-TCR complex) 0 0 0
CD40 CD40 molecule, TNF receptor superfamily member 5 0 0 0
CD40LG CD40 ligand 77 77 2
CD59 CD59 molecule, complement regulatory protein 0 0 0
CD79A CD79a molecule, immunoglobulin-associated alpha 0 0 0
CD79B CD79b molecule, immunoglobulin-associated beta 0 0 0
CD81 CD81 molecule 0 0 0
CD8A CD8a molecule 0 0 0
CDH23 cadherin-like 23 193 159 2
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon 0 0 0
CFD complement factor D (adipsin) 0 0 0
CFH complement factor H 0 0 0
CFI complement factor I 0 0 0
CFP complement factor properdin 0 0 0
CHD7 chromodomain helicase DNA binding protein 7 0 0 0
CIITA class II, major histocompatibility complex, transactivator 0 0 0
CLEC7A C-type lectin domain family 7, member A 0 0 0
CLRN1 USH3A clarin 1 9 9 1
COLEC11 collectin sub-family member 11 0 0 0
CORO1A coronin, actin binding protein, 1A 0 0 0
CR2 complement component (3d/Epstein Barr virus) receptor 2 0 0 0
CSF3R colony stimulating factor 3 receptor (granulocyte) 0 0 0
CTLA4 cytotoxic T-lymphocyte-associated protein 4 0 0 0
CTSC cathepsin C 0 0 0
CXCR4 chemokine (C-X-C motif) receptor 4 0 0 0
CYBA cytochrome b-245, alpha polypeptide 0 0 0
CYBB cytochrome b-245, beta polypeptide 0 0 0
DCLRE1C DNA cross-link repair 1C 0 0 0
DFNB31 deafness, autosomal recessive 31 20 20 2
DKC1 dyskeratosis congenita 1, dyskerin 0 0 0
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 0 0 0
DOCK8 dedicator of cytokinesis 8 0 0 0
DTNBP1 dystrobrevin binding protein 1 0 0 0
ELANE ELA2 elastase, neutrophil expressed 82 82 3
ERCC4 excision repair cross-complementation group 4 0 0 0
FADD Fas (TNFRSF6)-associated via death domain 0 0 0
FANCA Fanconi anemia, complementation group A 0 0 0
FANCB Fanconi anemia, complementation group B 0 0 0
FANCC Fanconi anemia, complementation group C 0 0 0
FANCD2 Fanconi anemia, complementation group D2 0 0 0
FANCE Fanconi anemia, complementation group E 0 0 0
FANCF Fanconi anemia, complementation group F 0 0 0
FANCG Fanconi anemia, complementation group G 0 0 0
FANCI Fanconi anemia, complementation group I 0 0 0
FANCL Fanconi anemia, complementation group L 0 0 0
FANCM Fanconi anemia, complementation group M 0 0 0
FAS Fas (TNF receptor superfamily, member 6) 53 48 2
FASLG Fas ligand (TNF superfamily, member 6) 0 0 0
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) 0 0 0
FCN3 ficolin (collagen/fibrinogen domain containing) 3 0 0 0
FERMT3 fermitin family member 3 0 0 0
FOXN1 forkhead box N1 0 0 0
FOXP3 forkhead box P3 25 24 2
FPR1 formyl peptide receptor 1 0 0 0
G6PC3 glucose 6 phosphatase, catalytic, 3 0 0 0
G6PD glucose-6-phosphate dehydrogenase 0 0 0
GAA glucosidase, alpha; acid 203 199 3
GATA1 GATA binding protein 1 (globin transcription factor 1) 0 0 0
GATA2 GATA binding protein 2 0 0 0
GBA Gaucher Disease; glucosidase, beta, acid 279 273 2
GFI1 growth factor independent 1 transcription repressor 0 0 0
GJB2 gap junction protein, beta 2, 26kDa 236 227 8
GJB6 gap junction protein, beta 6, 30kDa 12 11 2
GLA galactosidase, alpha 386 386 4
GPR98 G protein-coupled receptor 98 4 4 1
GSS GSS glutathione synthetase 0 0 0
HAX1 HCLS1 associated protein X-1 16 16 2
HPS1 Hermansky-Pudlak syndrome 1 0 0 0
HPS3 Hermansky-Pudlak syndrome 3 0 0 0
HPS4 Hermansky-Pudlak syndrome 4 0 0 0
HPS5 Hermansky-Pudlak syndrome 5 0 0 0
HPS6 Hermansky-Pudlak syndrome 6 0 0 0
ICOS inducible T-cell co-stimulator 0 0 0
IFNGR1 interferon gamma receptor 1 0 0 0
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) 0 0 0
IGLL1 immunoglobulin lambda-like polypeptide 1 0 0 0
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0 0 0
IKZF1 IKAROS family zinc finger 1 (Ikaros) 0 0 0
IL10 interleukin 10 0 0 0
IL10RA interleukin 10 receptor, alpha 0 0 0
IL10RB interleukin 10 receptor, beta 0 0 0
IL12B interleukin 12B 0 0 0
IL12RB1 interleukin 12 receptor, beta 1 0 0 0
IL17F interleukin 17F 0 0 0
IL17RA interleukin 17 receptor A 0 0 0
IL1RN interleukin 1 receptor antagonist 0 0 0
IL21R interleukin 21 receptor 0 0 0
IL2RA interleukin 2 receptor, alpha 0 0 0
IL2RG interleukin 2 receptor, gamma (severe combined immunodeficiency) 96 96 3
IL36RN interleukin 36 receptor antagonist 0 0 0
IL7R interleukin 7 receptor 0 0 0
IRAK4 interleukin-1 receptor-associated kinase 4 0 0 0
IRF8 interferon regulatory factor 8 0 0 0
ISG15 ISG15 ubiquitin-like modifier 0 0 0
ITCH itchy E3 ubiquitin protein ligase 0 0 0
ITK IL2-inducible T-cell kinase 0 0 0
JAG1 jagged 1 (Alagille syndrome) 158 156 4
JAK3 Janus kinase 3 0 0 0
KCNE1 potassium voltage-gated channel, Isk-related family, member 1 39 38 2
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 333 333 2
KRAS Kirsten rat sarcoma viral oncogene homolog 0 0 0
LAD1 ladinin 1 0 0 0
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 0 0 0
LCK lymphocyte-specific protein tyrosine kinase 0 0 0
LIG4 ligase IV, DNA, ATP-dependent 0 0 0
LPIN2 lipin 2 0 0 0
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 0 0 0
LRRC8A leucine rich repeat containing 8 family, member A 0 0 0
LYST lysosomal trafficking regulator 0 0 0
MAGT1 magnesium transporter 1 0 0 0
MALT1 mucosa associated lymphoid tissue lymphoma translocation gene 1 0 0 0
MASP2 mannan-binding lectin serine peptidase 2 0 0 0
MBL2 mannose-binding lectin (protein C) 2, soluble 0 0 0
MCM4 minichromosome maintenance complex component 4 0 0 0
MECP2 methyl CpG binding protein 2 (Rett syndrome) 356 254 2
MEFV Mediterranean fever 0 0 0
MLPH melanophilin 0 0 0
MPL myeloproliferative leukemia virus oncogene 0 0 0
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 0 0 0
MS4A1 membrane-spanning 4-domains, subfamily A, member 1 0 0 0
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 0 0 0
MVK mevalonate kinase 0 0 0
MYD88 myeloid differentiation primary response 88 0 0 0
MYO15A MYO15A myosin XVA 0 0 0
MYO6 myosin VI 18 18 2
MYO7A myosin VIIA 160 152 3
NBN nibrin 0 0 0
NCF1 neutrophil cytosolic factor 1 0 0 0
NCF2 neutrophil cytosolic factor 2 0 0 0
NCF4 neutrophil cytosolic factor 4, 40kDa 0 0 0
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 0 0 0
NHEJ1 nonhomologous end-joining factor 1 0 0 0
NHP2 NHP2 ribonucleoprotein 0 0 0
NLRP12 NLR family, pyrin domain containing 12 0 0 0
NLRP3 NLR family, pyrin domain containing 3 0 0 0
NOD2 nucleotide-binding oligomerization domain containing 2 0 0 0
NOP10 NOP10 ribonucleoprotein 0 0 0
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 0 0 0
ORAI1 ORAI calcium release-activated calcium modulator 1 0 0 0
OTOF otoferlin 71 65 3
PALB2 partner and localizer of BRCA2 0 0 0
PCDH15 protocadherin 15 45 45 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0 0 0
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 0 0 0
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 0 0 0
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0 0 0
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 0 0 0
PNP purine nucleoside phosphorylase 0 0 0
PRF1 perforin 1 (pore forming protein) 101 97 3
PRKDC protein kinase, DNA-activated, catalytic polypeptide 0 0 0
PSIP1 PC4 and SFRS1 interacting protein 1 1 1 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 0 0 0
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 0 0 0
PTPRC protein tyrosine phosphatase, receptor type, C 0 0 0
RAB27A RAB27A, member RAS oncogene family 17 17 2
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 0 0 0
RAD50 RAD50 homolog (S. cerevisiae) 0 0 0
RAD51C RAD51 paralog C 0 0 0
RAG1 recombination activating gene 1 0 0 0
RAG2 recombination activating gene 2 0 0 0
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1 0 0 0
RBM8A RNA binding motif protein 8A 0 0 0
RFX5 regulatory factor X, 5 (influences HLA class II expression) 0 0 0
RFXANK regulatory factor X-associated ankyrin-containing protein 0 0 0
RFXAP regulatory factor X-associated protein 0 0 0
RHOH ras homolog family member H 0 0 0
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0 0 0
RNF168 ring finger protein 168, E3 ubiquitin protein ligase 0 0 0
RPL11 ribosomal protein L11 0 0 0
RPL15 ribosomal protein L15 0 0 0
RPL26 ribosomal protein L26 0 0 0
RPL35A ribosomal protein L35a 0 0 0
RPL5 ribosomal protein L5 0 0 0
RPS10 ribosomal protein S10 0 0 0
RPS17 ribosomal protein S17 0 0 0
RPS19 ribosomal protein S19 0 0 0
RPS24 ribosomal protein S24 0 0 0
RPS26 ribosomal protein S26 0 0 0
RPS7 ribosomal protein S7 0 0 0
RTEL1 regulator of telomere elongation helicase 1 0 0 0
SBDS Shwachman-Bodian-Diamond syndrome 0 0 0
SERPINA1 AAT serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 105 91 2
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 0 0 0
SH2D1A XLP SH2 domain protein 1A 36 35 2
SLC26A4 solute carrier family 26, member 4 191 189 3
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1 0 0 0
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 0 0 0
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 0 0 0
SLX4 SLX4 structure-specific endonuclease subunit 0 0 0
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 0 0 0
SOCS1 suppressor of cytokine signaling 1 0 0 0
SP110 SP110 nuclear body protein 0 0 0
SPINK5 serine peptidase inhibitor, Kazal type 5 0 0 0
SRP72 signal recognition particle 72kDa 0 0 0
STAT1 signal transducer and activator of transcription 1, 91kDa 0 0 0
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 0 0 0
STAT5B signal transducer and activator of transcription 5B 0 0 0
STIM1 stromal interaction molecule 1 0 0 0
STK10 serine/threonine kinase 10 1 1 1
STK4 serine/threonine kinase 4 0 0 0
STX11 syntaxin 11 8 8 2
STXBP2 syntaxin binding protein 2 20 20 2
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0 0 0
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0 0 0
TAPBP TAP binding protein (tapasin) 0 0 0
TAZ tafazzin 0 0 0
TBK1 TANK-binding kinase 1 0 0 0
TBX1 T-box 1 0 0 0
TERC telomerase RNA component 0 0 0
TERT telomerase reverse transcriptase 5 1 5
TICAM1 toll-like receptor adaptor molecule 1 0 0 0
TINF2 TERF1 (TRF1)-interacting nuclear factor 2 0 0 0
TLR3 toll-like receptor 3 0 0 0
TMC1 transmembrane channel-like 1 28 28 3
TMC6 transmembrane channel-like 6 0 0 0
TMC8 transmembrane channel-like 8 0 0 0
TMIE transmembrane inner ear 9 9 2
TMPRSS3 transmembrane protease, serine 3 22 22 3
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 0 0 0
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C 0 0 0
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 0 0 0
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 0 0 0
TRAF3 TNF receptor-associated factor 3 0 0 0
TTC7A tetratricopeptide repeat domain 7A 0 0 0
TYK2 tyrosine kinase 2 0 0 0
UNC119 unc-119 homolog (C. elegans) 0 0 0
UNC13D unc-13 homolog D (C. elegans) 39 39 2
UNC93B1 unc-93 homolog B1 (C. elegans) 0 0 0
UNG uracil-DNA glycosylase 0 0 0
USB1 U6 snRNA biogenesis 1 0 0 0
USH1C Usher syndrome 1C (autosomal recessive, severe) 21 21 2
USH1G Usher syndrome 1G (autosomal recessive) 3 3 1
USH2A Usher syndrome 2A (autosomal recessive, mild) 148 148 2
VPS13B vacuolar protein sorting 13 homolog B (yeast) 0 0 0
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) 0 0 0
WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia) 135 132 2
WFS1 Wolfram syndrome 1 (wolframin) 256 256 2
WIPF1 WAS/WASL interacting protein family, member 1 0 0 0
WRAP53 WD repeat containing, antisense to TP53 0 0 0
XIAP BIRC4 X-linked inhibitor of apoptosis 20 20 2
XK X-linked Kx blood group (McLeod syndrome) 0 0 0
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa 0 0 0
ZBTB24 zinc finger and BTB domain containing 24 0 0 0
  Total of 291 gene entries 4563 4288 27