Intellectual Disability (104 genes) - IPG
Full name: |
Intellectual Disability (104 genes) - IPG
|
Version number: |
Version 3
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Laboratory: | |
Created: |
20 Dec 2021 - 12:50
|
Changed: |
10 Oct 2022 - 15:13
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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 |