DBD Gene Database

A curated resource for researchers & clinicians providing genotype and phenotype data from six neurodevelopmental disorders obtained from published literature.
Intellectual Disability Autism Attention Deficit Hyperactivity Disorder Schizophrenia Bipolar Disorder Epilepsy

Tiered Classification Methology - Curated genotype and phenotype data is presented with a tiered classification of genes based on the number of de novo pathogenic loss-of-function (pLOF) variants. These variants are defined as LOF nonsense, splice site, and frameshift sequence variants and single gene deletions that include one or more exons. Candidate genes have been ranked into four tiers based on the strength of evidence, as outlined below.

Tier 1
Genes with three or more de novo pathogenic loss-of-function variants
 
Tier 2
Genes with two de novo pathogenic loss-of-function variants
 
Genes from tiers 1 and 2 are considered high confidence DBD causative genes
Tier 3
Genes with one de novo pathogenic loss-of-function variant
 
Tier 4
Genes with only inherited (or unknown inheritance) pathogenic loss-of-function variants
Genes from tiers 3 and 4 are categorized as emerging DBD causative genes
Click on a column header to sort by that category.
Gene Tier De novo Inherited Unknown Total
1
10
100
Cases
ACACA Tier 4 0 1 2 3
ADNP Tier 1 16 1 3 20
AIFM3 Tier 4 0 0 2 2
ANK2 Tier 1 4 1 3 8
ANKRD11 Tier 1 18 4 2 24
ANKS1B Tier 4 0 0 3 3
ANOS1 Tier 3 1 0 1 2
AP1S2 Tier 4 0 7 0 7
APH1A Tier 3 1 1 0 2
ARHGAP24 Tier 3 1 1 0 2
ARHGEF38 Tier 4 0 1 1 2
ARID1B Tier 1 40 0 13 53
ASH1L Tier 1 3 0 1 4
ASXL3 Tier 1 9 0 0 9
ATRX Tier 3 1 10 0 11
AUTS2 Tier 1 9 4 9 22
AXL Tier 3 1 0 1 2
BAIAP2 Tier 3 1 0 1 2
BIRC6 Tier 3 1 0 1 2
BRAT1 Tier 4 0 3 1 4
BRWD1 Tier 3 1 1 1 3
CACNA1C Tier 4 0 0 2 2
CACNA2D2 Tier 4 0 1 3 4
CACNA2D3 Tier 3 1 1 0 2
CACNA2D4 Tier 4 0 1 5 6
CALCR Tier 4 0 0 2 2
CAPN12 Tier 4 0 5 1 6
NAXD Tier 4 0 7 0 7
CASK Tier 1 13 1 8 22
CBL Tier 2 2 0 0 2
CCDC91 Tier 3 1 1 0 2
CCSER1 Tier 3 1 0 1 2
CD163L1 Tier 3 1 4 6 11
CDC42BPB Tier 3 1 0 2 3
CDH13 Tier 4 0 1 3 4
CDKL5 Tier 1 36 0 21 57
CERS4 Tier 4 0 1 2 3
CHAMP1 Tier 1 3 0 0 3
CHD1L Tier 4 0 0 14 14
CHD2 Tier 1 13 0 0 13
CHD7 Tier 1 32 1 78 111
CHD8 Tier 1 14 1 3 18
CHRNA7 Tier 3 1 3 4 8
CNTN4 Tier 4 0 2 1 3
CNTN6 Tier 4 0 2 3 5
CNTNAP2 Tier 4 0 6 3 9
COBL Tier 4 0 1 1 2
CSDE1 Tier 3 1 0 1 2
CSMD1 Tier 2 2 2 2 6
CSTF2T Tier 3 1 3 1 5
CTNNA3 Tier 2 2 23 2 27
CTNNB1 Tier 1 12 0 1 13
CTTNBP2 Tier 3 1 4 2 7
CUL3 Tier 2 2 0 2 4
CUL4B Tier 4 0 12 4 16
CYFIP1 Tier 4 0 0 2 2
CYLC2 Tier 4 0 1 1 2
DDHD2 Tier 3 1 2 4 7
DDX3X Tier 2 2 0 0 2
DDX53 Tier 4 0 2 0 2
DIP2A Tier 2 2 0 2 4
DISC1 Tier 4 0 0 2 2
DLG2 Tier 2 2 1 2 5
DMD Tier 1 10 9 2 21
DNAH10 Tier 4 0 5 9 14
DNM3 Tier 3 1 1 2 4
DPP3 Tier 3 1 1 0 2
DPP6 Tier 1 4 4 3 11
DPYD Tier 1 3 2 1 6
DSCAM Tier 1 3 0 0 3
DST Tier 3 1 0 5 6
DYRK1A Tier 1 15 1 3 19
EDA2R Tier 3 1 1 0 2
EFTUD2 Tier 1 12 1 1 14
EHMT1 Tier 1 11 1 5 17
ELAVL2 Tier 2 2 0 0 2
EP300 Tier 1 11 0 2 13
EP400 Tier 3 1 2 1 4
ERBB4 Tier 3 1 1 1 3
EYS Tier 4 0 0 2 2
FCRL6 Tier 3 1 3 4 8
FHIT Tier 2 2 1 1 4
FLG Tier 3 1 1 0 2
FOXP1 Tier 1 13 0 4 17
GABRB3 Tier 3 1 0 2 3
GALNT18 Tier 3 1 0 1 2
GATAD2B Tier 2 2 1 0 3
GGNBP2 Tier 3 1 0 1 2
GJB6 Tier 4 0 1 1 2
GRIN2B Tier 1 5 1 6 12
GRIP1 Tier 4 0 0 2 2
GSDMC Tier 3 1 0 4 5
HIST1H1E Tier 2 2 0 0 2
HIVEP3 Tier 2 2 0 0 2
HNRNPU Tier 3 1 1 1 3
IL1RAPL1 Tier 1 3 10 6 19
IMMP2L Tier 4 0 9 11 20
PATJ Tier 4 0 0 3 3
IQGAP2 Tier 4 0 2 3 5
IQSEC2 Tier 1 3 0 1 4
ITSN1 Tier 2 2 0 0 2
JADE2 Tier 4 0 0 2 2
JUP Tier 3 1 0 1 2
KANK1 Tier 4 0 2 1 3
KANSL1 Tier 1 4 1 6 11
KATNAL2 Tier 2 2 2 3 7
KCNQ2 Tier 1 3 6 0 9
KDM3A Tier 3 1 0 2 3
KDM5B Tier 1 3 3 1 7
KDM5C Tier 2 2 7 1 10
KDM6A Tier 1 7 2 4 13
KDM6B Tier 2 2 0 0 2
KIAA0100 Tier 4 0 2 3 5
KMT2A Tier 1 9 0 0 9
KMT2C Tier 2 2 0 0 2
KRT34 Tier 4 0 1 1 2
KYNU Tier 4 0 0 7 7
L1CAM Tier 3 1 4 2 7
LAMA2 Tier 2 2 1 2 5
LAMC3 Tier 4 0 4 0 4
LEO1 Tier 3 1 0 1 2
LINGO2 Tier 3 1 1 1 3
LPP Tier 3 1 1 0 2
LRBA Tier 4 0 0 2 2
LRP2 Tier 2 2 4 0 6
MACROD2 Tier 3 1 1 2 4
MAGEL2 Tier 1 4 1 1 6
MAPT Tier 4 0 0 2 2
MBD5 Tier 1 3 2 3 8
MCC Tier 4 0 2 0 2
MCPH1 Tier 3 1 3 0 4
MECP2 Tier 1 12 3 11 26
MED13L Tier 1 15 0 0 15
MEF2C Tier 1 9 0 4 13
MIB1 Tier 4 0 8 6 14
MOV10 Tier 2 2 0 0 2
MSRA Tier 3 1 0 1 2
MTMR12 Tier 4 0 1 1 2
MYH10 Tier 2 2 1 0 3
MYOC Tier 3 1 5 2 8
MYT1L Tier 1 4 0 1 5
NAA15 Tier 3 1 0 1 2
NAALADL2 Tier 4 0 2 1 3
NBEA Tier 2 2 0 0 2
NCKAP1 Tier 2 2 0 0 2
NCKAP5 Tier 3 1 2 1 4
NEDD9 Tier 2 2 0 0 2
NFIA Tier 2 2 0 1 3
NLGN3 Tier 4 0 1 1 2
NR3C2 Tier 3 1 0 1 2
NRG3 Tier 4 0 1 2 3
NRXN1 Tier 1 21 40 41 102
NRXN3 Tier 4 0 3 0 3
NSD1 Tier 1 9 2 4 15
OR2T10 Tier 3 1 1 0 2
OR52M1 Tier 4 0 2 0 2
PAH Tier 4 0 15 7 22
PAK3 Tier 4 0 3 0 3
PARK2 Tier 3 1 12 10 23
PCDH15 Tier 3 1 0 3 4
PCOLCE Tier 4 0 1 1 2
PDE11A Tier 3 1 1 0 2
PHF2 Tier 2 2 0 0 2
PHF21A Tier 2 2 0 0 2
PLA1A Tier 4 0 0 2 2
PLA2G4F Tier 4 0 0 2 2
PLCB1 Tier 3 1 3 1 5
POGZ Tier 1 7 0 3 10
PPM1D Tier 3 1 2 1 4
PSD3 Tier 3 1 1 0 2
PTCHD1 Tier 1 3 6 0 9
PTEN Tier 1 8 7 8 23
PTPRD Tier 3 1 3 1 5
PTPRM Tier 4 0 0 2 2
PURA Tier 1 6 0 0 6
QRICH1 Tier 3 1 0 1 2
RAB2A Tier 3 1 1 0 2
RAB39B Tier 3 1 3 0 4
RAI1 Tier 1 9 0 9 18
RALGAPB Tier 2 2 0 0 2
RANBP17 Tier 3 1 6 1 8
RBFOX1 Tier 3 1 11 6 18
RELN Tier 4 0 1 1 2
RIMS1 Tier 2 2 0 0 2
RNASET2 Tier 4 0 1 1 2
SCARA3 Tier 3 1 2 0 3
SCN1A Tier 1 33 2 24 59
SCN2A Tier 1 17 0 6 23
SDK1 Tier 4 0 1 1 2
SETBP1 Tier 1 5 1 2 8
SETD1A Tier 1 3 0 0 3
SETD2 Tier 2 2 1 0 3
SETD5 Tier 1 11 0 1 12
SGSM3 Tier 4 0 2 0 2
SHANK3 Tier 1 11 4 2 17
SLC16A2 Tier 3 1 2 6 9
SLC2A1 Tier 1 4 0 39 43
SLC35A2 Tier 1 4 0 0 4
SLC4A10 Tier 3 1 0 2 3
SLC6A1 Tier 3 1 0 1 2
SLC6A8 Tier 2 2 2 4 8
SLC9A6 Tier 3 1 10 3 14
SLCO1B1 Tier 4 0 7 0 7
SLCO1B3 Tier 4 0 3 0 3
SMC1A Tier 2 2 0 0 2
SPARCL1 Tier 4 0 1 1 2
SPAST Tier 2 2 1 3 6
SRCAP Tier 1 10 0 0 10
STXBP1 Tier 1 38 1 1 40
STXBP5 Tier 3 1 0 1 2
SUCLG2 Tier 3 1 1 0 2
SYNGAP1 Tier 1 32 1 3 36
TAF13 Tier 2 2 0 0 2
TBR1 Tier 2 2 1 0 3
TCF4 Tier 1 22 1 13 36
TCF7L2 Tier 2 2 0 0 2
TGM1 Tier 3 1 0 1 2
THSD7A Tier 3 1 1 0 2
TNRC6B Tier 2 2 0 1 3
TRIO Tier 2 2 4 0 6
TRPM1 Tier 4 0 5 1 6
TRPM3 Tier 4 0 1 2 3
TSPAN17 Tier 3 1 1 0 2
TTLL3 Tier 4 0 4 2 6
TTN Tier 2 2 0 0 2
UBE3A Tier 1 4 6 3 13
UPF3B Tier 2 2 7 0 9
UTP6 Tier 4 0 1 2 3
VIL1 Tier 4 0 4 2 6
VPS13B Tier 4 0 4 7 11
WAC Tier 2 2 0 0 2
WDFY3 Tier 2 2 1 1 4
WDR45 Tier 1 10 0 2 12
WHSC1 Tier 3 1 0 1 2
WWOX Tier 4 0 5 2 7
YTHDC1 Tier 2 2 0 0 2
ZBBX Tier 4 0 1 1 2
ZMYND11 Tier 1 3 1 3 7
ZNF559 Tier 4 0 2 8 10
ZNF774 Tier 4 0 5 4 9
ZWILCH Tier 2 2 0 0 2
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