Intellectual Disability (104 genes) - IPG

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Full name:
Intellectual Disability (104 genes) - IPG
Version number:
Version 3
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Created:
20 Dec 2021 - 12:50
Changed:
10 Oct 2022 - 15:13
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ADNP 100.00 1 NM_001282531.3
ANKRD11 100.00 1 NM_013275.6
ARHGEF9 100.00 1 NM_001353921.2
ARID1A 100.00 1 NM_006015.6
ARID1B 98.83 1 NM_001374828.1
ARX 100.00 1 NM_139058.3
ASXL3 100.00 1 NM_030632.3
ATRX 100.00 1 NM_000489.5
BCL11A 100.00 1 NM_022893.4
BRAF 100.00 1 NM_001354609.2
BRWD3 100.00 1 NM_153252.5
CAMK2G 100.00 1 NM_172171.2
CAMTA1 100.00 1 NM_015215.4
CASK 100.00 1 NM_003688.3
CBL 100.00 1 NM_005188.4
CDKL5 100.00 1 NM_001323289.2
CERT1 100.00 1 NM_001130105.1
CHAMP1 100.00 1 NM_032436.4
CHD2 100.00 1 NM_001271.4
CNOT3 100.00 1 NM_014516.4
CREBBP 100.00 1 NM_004380.3
CTNNB1 100.00 1 NM_001904.4
CTSA 100.00 1 NM_000308.4
DDX3X 100.00 1 NM_001356.4
DHCR7 100.00 1 NM_001360.3
DNM1 100.00 1 NM_004408.4
DYRK1A 100.00 1 NM_001347721.2
EHMT1 100.00 1 NM_024757.5
EP300 100.00 1 NM_001429.4
EZH2 100.00 1 NM_004456.5
FGD1 100.00 1 NM_004463.3
FGFR3 100.00 1 NM_001163213.1
FMR1 100.00 1 NM_002024.6
FOXG1 100.00 1 NM_005249.5
FOXP1 100.00 1 NM_032682.6
GLI3 100.00 1 NM_000168.6
GNAO1 100.00 1 NM_020988.3
HACE1 100.00 1 NM_020771.4
HIVEP2 100.00 1 NM_006734.4
HNRNPK 100.00 1 NM_031263.4
HNRNPU 100.00 1 NM_031844.3
HPRT1 100.00 1 NM_000194.3
HRAS 100.00 1 NM_005343.4
HUWE1 100.00 1 NM_031407.7
IQSEC2 100.00 1 NM_001111125.3
ITPR1 100.00 1 NM_001168272.1
KANSL1 100.00 1 NM_001193466.2
KAT6A 100.00 1 NM_006766.5
KCNH1 100.00 1 NM_172362.3
KCNQ2 100.00 1 NM_172107.4
KDM6A 100.00 1 NM_001291415.2
KIF1A 100.00 1 NM_001244008.1
KMT2A 100.00 1 NM_001197104.2
KPTN 100.00 1 NM_007059.4
KRAS 100.00 1 NM_033360.4
LRP1 100.00 1 NM_002332.3
MECP2 100.00 1 NM_001110792.2 et NM_004992.3
MED12 100.00 1 NM_005120.3
MED13L 100.00 1 NM_015335.4
MID1 100.00 1 NM_000381.4
MTOR 100.00 1 NM_004958.4
NAA10 100.00 1 NM_003491.4
NALCN 100.00 1 NM_052867.4
NEXMIF 100.00 1 NM_001008537.3
NF1 100.00 1 NM_001042492.3
NFIX 100.00 1 NM_002501.4
NIPBL 100.00 1 NM_133433.4
NLGN1 100.00 1 NM_014932.5
NLGN3 100.00 1 NM_181303.2
NLGN4X 100.00 1 NM_181332.3
NSD1 100.00 1 NM_022455.4
PACS1 100.00 1 NM_018026.4
PCGF2 100.00 1 NM_007144.3
PIGT 100.00 1 NM_015937.6
POU1F1 100.00 1 NM_000306.4
PPP2R1A 100.00 1 NM_014225.6
PPP2R5D 100.00 1 NM_006245.4
PTCHD1 100.00 1 NM_173495.3
PURA 100.00 1 NM_005859.5
RAI1 100.00 1 NM_030665.4
SATB2 100.00 1 NM_001172509.2
SCN1A 100.00 1 NM_001165963.3
SCN2A 100.00 1 NM_001040142.2
SCN8A 100.00 1 NM_001330260.2
SETBP1 100.00 1 NM_015559.3
SETD5 100.00 1 NM_001080517.3
SHANK1 100.00 1 NM_016148.5
SHANK2 100.00 1 NM_133266.5
SLC2A1 100.00 1 NM_006516.3
SLC9A6 100.00 1 NM_001042537.1
SMARCA2 100.00 1 NM_003070.5
SMC1A 100.00 1 NM_006306.4
SMC3 100.00 1 NM_005445.4
SMS 100.00 1 NM_004595.5
SOX3 100.00 1 NM_005634.2
STXBP1 100.00 1 NM_001032221.6
SYNGAP1 100.00 1 NM_006772.3
TBR1 100.00 1 NM_006593.4
TCF4 100.00 1 NM_001083962.2
TUBB3 100.00 1 NM_006086.4
UBE3A 100.00 1 NM_130839.5
USP9X 100.00 1 NM_001039591.3
VPS13B 100.00 1 NM_017890.4
WDR45 100.00 1 NM_001029896.2