LOVD - Current system status

2017/07/26 10:43:36 CEST - Wednesday, July 26th 2017

Gene symbol Gene name Total variants Unique variants Patients
AARS alanyl-tRNA synthetase 3 3 3
ACP5 acid phosphatase 5, tartrate resistant 20 9 10
AGK Acylglycerol kinase 2 1 1
ALG11 Asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast) 8 6 4
ANKH Ankylosis, progressive homolog (mouse) 20 1 14
ASXL1 additional sex combs like 1 (Drosophila) 7 7 7
CDON Cdon homolog (mouse) 61 44 61
CELSR1 Cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) 191 33 172
CHRNG Cholinergic receptor, nicotinic, gamma polypeptide 34 25 29
DIS3L2 DIS3 mitotic control homolog (S. cerevisiae)-like 2 9 4 5
DNMT1 DNA (cytosine-5-)-methyltransferase 1 4 2 4
KANSL1 KAT8 regulatory NSL complex subunit 1 59 34 36
KIF22 kinesin family member 22 9 5 7
PIK3R5 Phosphoinositide-3-kinase, regulatory subunit 5 3 1 2
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 171 81 129
POLR3B polymerase (RNA) III (DNA directed) polypeptide B 12 8 6
SCRIB Scribbled homolog (Drosophila) 113 16 111
SLC4A4 Solute carrier family 4, sodium bicarbonate cotransporter, member 4 77 26 31
SLC6A3 Solute Carrier Family 6 (Neurotransmitter Transporter, Dopamine), Member 3 13 13 10
SLCO2A1 Solute carrier organic anion transporter family, member 2A1 70 23 48
SOX5 SRY (sex determining region Y)-box 5 6 6 6
TBX22 T-box 22 1049 39 292
TMEM237 Transmembrane protein 237 40 6 20
TRPV3 transient receptor potential cation channel, subfamily V, member 3 3 3 3
TTC19 tetratricopeptide repeat domain 19 8 2 4
VAX1 Ventral anterior homeobox 1 2 1 1
ZNF644 zinc finger protein 644 17 6 17
  Total of 27 gene entries 2011 405 1033