From: The genetic basis of non-syndromic intellectual disability: a review
Gene Name | OMIM Ref | X-linked/Autosomal (MR/ID) | Cytogenetic Banda | Phenotypic Expression* | Mutation Type | Reference |
---|---|---|---|---|---|---|
ACSL4 | 300157 | X-linked (MRX63 & 68) | Xq22.3 | Males: MR | Missense, splice site | (Meloni et al. 2002) |
Females: Variable | ||||||
AFF2/FMR2 | 300806 | X-linked | Xq28 | Dominantb | 5′ GGC repeat amplification leading to methylation | (Gecz et al. 1996) |
AGTR2 | 300034 | X-linked (MRX88) | Xq23 | Recessive | Missense, Truncating | (Vervoort et al. 2002) |
AP1S2 | 300629 | X-linked (MRX59) | Xp22.2 | Recessive | Truncating | (Tarpey et al. 2006) |
ARHGEF6 | 300267 | X-linked (MRX46) | Xq26.3 | Recessive | Splice site | (Kutsche et al. 2000) |
ARX | 300382 | X-linked | Xp21.3 | Males: MR; Females: Low-normal IQ | In frame insertions/deletions, missense | (Bienvenu et al. 2002; Stromme et al. 2002a, b; Troester et al. 2007) |
ATRX | 300032 | X-linked | Xq21.1 | Recessive | Missense | (Yntema et al. 2002) |
BRWD3 | 300553 | X-linked (MRX93) | Xq21.1 | Recessive | Missense, frame-shift | (Field et al. 2007) |
CASK | 300172 | X-linked | Xp11.4 | Recessive | Missense | |
CC2D1A | 610055 | Autosomal (MRT3) | 19p13.12 | Recessive | Truncating | (Basel-Vanagaite et al. 2006) |
CDH15 | 114019 | Autosomal (MRD3) | 16q24.3 | Dominant | Missense | (Bhalla et al. 2008) |
CRBN | 609262 | Autosomal (MRT2) | 3p26.3 | Recessive | Truncating | (Higgins et al. 2004) |
DLG3 | 300189 | X-linked (MRX90) | Xq13.1 | Males: MR | Truncating | (Tarpey et al. 2004) |
Females: Variable | ||||||
DOCK8 | 611432 | Autosomal (MRD2) | 9p24.3 | Dominant | Deletion, translocation | (Griggs et al. 2008) |
FGD1 | 305400 | X-linked | Xp11.22 | Recessive | Missense | (Lebel et al. 2002) |
FTSJ1 | 300499 | X-linked (MRX9 & 44) | Xp11.23 | Recessive | Truncating, missense | (Freude et al. 2004) |
GDI1 | 300104 | X-linked (MRX41 & 48) | Xq28 | Dominantb | Truncating, missense | |
GRIK2 | 138244 | Autosomal (MRT6) | 6q21 | Recessive | Truncating | (Motazacker et al. 2007) |
HUWE1 | 300697 | X-linked (MRXS-Turner & MRX17) | Xp11.22 | Recessive | Missense, microduplication | (Froyen et al. 2008) |
IL1RAPL1 | 300206 | X-linked (MRX21) | Xp21.3–p21.2 | Recessive | Truncating, deletion | |
JARID1C (KDM5C) | 314690 | X-linked | Xp11.22 | Recessive | Truncating, missense | (Jensen et al. 2005) |
KIRREL3 | 607761 | Autosomal (MRD4) | 11q24.2 | Dominant | Missense | (Bhalla et al. 2008) |
MAGT1 | 300715 | X-linked (MRX95) | Xq21.1 | Dominant | Missense | (Molinari et al. 2008) |
MBD5 | 611472 | Autosomal (MRD1) | 2q23.1 | Dominant | Deletion, missense | (Wagenstaller et al. 2007) |
MECP2 | 300005 | X-linked (MRXS13) | Xq28 | Dominant | Truncating, missense, deletion | (Orrico et al. 2000) |
NLGN4 | 300427 | X-linked (AUTSX2) | Xp22.31–p22.32 | Recessive | Truncating | (Laumonnier et al. 2004) |
OPHN1 | 300127 | X-linked | Xq12 | Recessive | Truncating, deletion | |
PAK3 | 300142 | X-linked (MRX30) | Xq22.3 | Recessive | Truncating, missense, splice site | |
PQBP1 | 300463 | X-linked | Xp11.23 | Recessive | Missense | (Kalscheuer et al. 2003) |
PRSS12 | 606709 | Autosomal (MRT1) | 4q26 | Recessive | Truncating | (Molinari et al. 2002) |
PTCHD1 | Â | X-linked | Â | Recessive | Deletion | (Noor et al. in press) |
RPS6KA3 | 300075 | X-linked (MRX19) | Xp22.12 | Recessive | Missense | (Merienne et al. 1999) |
SHANK2 | 603290 | Autosomal | 11q13.3–13.4 | Dominant | CNV deletion, missense | (Berkel et al. 2010) |
SHROOM4 | 300579 | X-linked | Xp11.22 | Dominant | Translocation; missense | |
SLC6A8 | 300036 | X-linked | Xq28 | Dominantb | Truncating, missense | |
STXBP1 | 602926 | Autosomal | 9q34.11 | Dominant | Deletion, nonsense | |
SYNGAP1 | 603384 | Autosomal (MRD5) | 6p21.32 | Dominant | Truncating | |
SYP | 313475 | X-linked | Xp11.23 | Recessive | Truncating, missense | (Tarpey et al. 2009) |
TSPAN7 | 300096 | X-linked (MRX58) | Xp11.4 | Recessive | Truncating, missense | (Zemni et al. 2000) |
TRAPPC9 | 611966 | Autosomal (MRT13) | 8q24.3 | Recessive | Truncating | (Mir et al. 2009 |
TUSC3 | 601385 | Autosomal (MRT7) | 8p22 | Recessive | Truncating | |
UPF3B | 300298 | X-linked (MRXS14) | Xq24 | Recessive | Truncating | (Tarpey et al. 2007) |
ZNF41 | 314995 | X-linked (MRX89) | Xp11.3 | Variable | Missense, splice site | (Shoichet et al. 2003) |
ZNF674 | 300573 | X-linked (MRX92) | Xp11.3 | Recessive | Truncating | (Lugtenberg et al. 2006 |
ZNF711 | 314990 | X-linked | Xq21.1 | Recessive | Truncating | (Tarpey et al. 2009) |
ZNF81 | 314998 | X-linked (MRX45) | Xp11.23 | Recessive | Missense | (Kleefstra et al. 2004) |