LOVD - Current system status

2017/12/11 23:02:35 UTC - Monday, December 11th 2017

Gene symbol Gene name Total variants Unique variants Patients
ALMS1 Alstrom syndrome 1 622 270 340
ARL6 ADP-ribosylation factor-like 6 93 22 50
BBIP1 BBSome interacting protein 1 2 1 1
BBS1 Bardet-Biedl syndrome 1 347 54 188
BBS10 Bardet-Biedl syndrome 10 330 69 174
BBS12 Bardet-Biedl syndrome 12 115 38 60
BBS2 Bardet-Biedl syndrome 2 166 54 89
BBS4 Bardet-Biedl syndrome 4 81 25 52
BBS5 Bardet-Biedl syndrome 5 68 16 37
BBS7 Bardet-Biedl syndrome 7 44 18 23
BBS9 Bardet-Biedl syndrome 9 43 22 24
CEP290 centrosomal protein 290kDa 38 17 21
CISD2 CDGSH iron sulfur domain 2 28 4 14
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 197 58 99
LZTFL1 leucine zipper transcription factor-like 1 6 3 3
MKKS McKusick-Kaufman syndrome 92 41 62
MKS1 Meckel syndrome, type 1 13 9 9
SDCCAG8 serologically defined colon cancer antigen 8 43 14 22
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 156 48 82
TRIM32 tripartite motif containing 32 15 7 9
TTC8 tetratricopeptide repeat domain 8 53 16 29
WDPCP WD repeat containing planar cell polarity effector 6 5 5
WFS1 Wolfram syndrome 1 (wolframin) 1010 315 536
  Total of 23 gene entries 3568 1126 1850