| - GRCh37:
- ChrX:153217915-153618382
| EMD, FLNA, HCFC1, IRAK1, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TKTL1, TMEM187 | | Syndromic X-linked intellectual disability Lubs type | Pathogenic
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:139586015-154774957
| ABCD1, AFF2, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CD99L2, CDR1, CETN2, CLIC2, CMC4, CNGA2, CSAG1, CSAG3, CTAG1A, CTAG1B, CTAG2, CXorf51A, CXorf51B, DKC1, DNASE1L1, DUSP9, EMD, EOLA1, EOLA2, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FATE1, FLNA, FMR1, FMR1-AS1, FMR1NB, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GDI1, GPR50, GPR50-AS1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, HMGB3, HSFX1, HSFX2, IDH3G, IDS, IKBKG, IRAK1, L1CAM, LAGE3, LDOC1, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAMLD1, MECP2, MIR105-1, MIR105-2, MIR224, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MPP1, MTCP1, MTM1, MTMR1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PASD1, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PRRG3, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SLITRK2, SLITRK4, SMIM9, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM185A, TMEM187, TMLHE, TREX2, UBE2NL, UBL4A, VBP1, VMA21, ZFP92, ZNF185, ZNF275 | | Syndromic X-linked intellectual disability Lubs type | Pathogenic
(Mar 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153296137-153296141
- GRCh38:
- ChrX:154030686-154030690
| MECP2 | V157fs, V287fs, V380fs, V392fs | Syndromic X-linked intellectual disability Lubs type, not provided | Pathogenic/Likely pathogenic
(Mar 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296160-153296163
- GRCh38:
- ChrX:154030709-154030712
| MECP2 | H149fs, H279fs, H372fs, H384fs | Syndromic X-linked intellectual disability Lubs type, X-linked intellectual disability-psychosis-macroorchidism syndrome | Likely pathogenic
(Aug 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:152372767-155233731
| CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF275 | | Chromosome Xq28 duplication syndrome, Syndromic X-linked intellectual disability Lubs type | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:153296068-153297734
- GRCh38:
- ChrX:154030617-154032283
| MECP2 | M1fs, P101fs, P113fs, P8fs | Autism, susceptibility to, X-linked 3, Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome,
Rett syndrome, Syndromic X-linked intellectual disability Lubs type | Pathogenic
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153296168
- GRCh38:
- ChrX:154030717
| MECP2 | H148Y, H278Y, H371Y, H383Y | X-linked intellectual disability-psychosis-macroorchidism syndrome, Syndromic X-linked intellectual disability Lubs type | Uncertain significance
(Dec 27, 2021) | criteria provided, single submitter |
| - GRCh38:
- ChrX:140888048-154656872
| ABCD1, AFF2, ARHGAP4, ATP2B3, ATP6AP1, ATP6AP1-DT, AVPR2, BCAP31, BGN, CCNQ, CD99L2, CETN2, CNGA2, CSAG1, CSAG2, CSAG3, CTAG1A, CTAG1B, CTAG2, CXorf51A, CXorf51B, DNASE1L1, DUSP9, EMD, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, FAM223A, FAM223B, FAM3A, FAM50A, FATE1, FLNA, FMR1, FMR1-AS1, FMR1NB, FRAXA, FRAXE, G6PD, GABRA3, GABRE, GABRQ, GDI1, GPR50, GPR50-AS1, HAUS7, HCFC1, HCFC1-AS1, HMGB3, HSFX1, HSFX2, HSFX3, HSFX4, IDH3G, IDS, IKBKG, IRAK1, L1CAM, L1CAM-AS1, LAGE3, LDOC1, LINC00850, LINC02927, LOC100533997, LOC105373367, LOC105373378, LOC105373383, LOC105377213, LOC106050102, LOC106050103, LOC107032825, LOC107048982, LOC107048984, LOC107181288, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108281126, LOC109396974, LOC110121199, LOC111365170, LOC111589209, LOC113875014, LOC116309161, LOC116309162, LOC121627982, LOC121627983, LOC121627985, LOC121853070, LOC121853071, LOC121853072, LOC122319696, LOC125467790, LOC125467791, LOC125467792, LOC125467793, LOC126863333, LOC126863334, LOC126863335, LOC126863336, LOC126863337, LOC126863338, LOC126863339, LOC126863340, LOC126863341, LOC126863342, LOC126863343, LOC126863344, LOC126863345, LOC126863346, LOC126863347, LOC129391317, LOC129391318, LOC129929048, LOC129929049, LOC129929050, LOC129929051, LOC129929052, LOC129929053, LOC130068774, LOC130068775, LOC130068776, LOC130068777, LOC130068778, LOC130068779, LOC130068780, LOC130068781, LOC130068782, LOC130068783, LOC130068784, LOC130068785, LOC130068786, LOC130068787, LOC130068788, LOC130068789, LOC130068790, LOC130068791, LOC130068792, LOC130068793, LOC130068794, LOC130068795, LOC130068796, LOC130068797, LOC130068798, LOC130068799, LOC130068800, LOC130068801, LOC130068802, LOC130068803, LOC130068804, LOC130068805, LOC130068806, LOC130068807, LOC130068808, LOC130068809, LOC130068810, LOC130068811, LOC130068812, LOC130068813, LOC130068814, LOC130068815, LOC130068816, LOC130068817, LOC130068818, LOC130068819, LOC130068820, LOC130068821, LOC130068822, LOC130068823, LOC130068824, LOC130068825, LOC130068826, LOC130068827, LOC130068828, LOC130068829, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, LOC130068855, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, LOC645188, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA4-AS1, MAGEA6, MAGEA8, MAGEA8-AS1, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAMLD1, MECP2, MIR105-1, MIR105-2, MIR12129, MIR2114, MIR224, MIR3202-1, MIR3202-2, MIR320D2, MIR4330, MIR452, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR6858, MIR718, MIR767, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, MTM1, MTMR1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PASD1, PDZD4, PLXNA3, PLXNB3, PLXNB3-AS1, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNMA6F, PRRG3, PWWP4, RENBP, RPL10, SLC10A3, SLC6A8, SLITRK2, SLITRK4, SNORA70, SPANXA1, SPANXA2, SPANXA2-OT1, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM185A, TMEM187, TREX2, UBE2NL, UBL4A, VMA21, ZFP92, ZNF185, ZNF275 | | Syndromic X-linked intellectual disability Lubs type | Pathogenic
(Feb 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153297653
- GRCh38:
- ChrX:154032202
| MECP2 | | Severe neonatal-onset encephalopathy with microcephaly | Uncertain significance
(Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153128098-153498669
| ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TMEM187 | | Syndromic X-linked intellectual disability Lubs type | Pathogenic
(May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153295874-153295875
- GRCh38:
- ChrX:154030423-154030424
| MECP2 | P376fs, P469fs, P481fs | Severe neonatal-onset encephalopathy with microcephaly, Syndromic X-linked intellectual disability Lubs type | Likely pathogenic
(Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153295819
- GRCh38:
- ChrX:154030368
| MECP2 | | Syndromic X-linked intellectual disability Lubs type, Severe neonatal-onset encephalopathy with microcephaly | Likely pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296022
- GRCh38:
- ChrX:154030571
| MECP2 | | Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome, Autism, susceptibility to, X-linked 3,
Severe neonatal-onset encephalopathy with microcephaly, Syndromic X-linked intellectual disability Lubs type, Rett syndrome
| Benign/Likely benign
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:15323210-153542100
| PAGE2B, PAGE3, RPA4, SPIN4, TMSB15B, TNMD, TREX2, ZNF630, ATG4A, COL4A6, DMRTC1, DMRTC1B, DNAAF6, GAGE2D, GAGE2E, KLHL13, MBNL3, MBTPS2, MIR424, MIR105-2, MIR221, MIR222, MCTS1, KLHL15, KLHL34, MAGEA11, MAGEA12, LHFPL1, LINC01560, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, KLHL4, KRBOX4, MCF2, MIR105-1, MIR106A, MIR19B2, GAGE8, GATA1, GPRASP3, GRIA3, GRIPAP1, GCNA, DYNLT3, EIF1AX, EIF2S3, ELF4, ELK1, GDPD2, GJB1, GPR174, GPR34, GPR50, GPR50-AS1, GPR82, GPRASP1, GPRASP2, MIR223, MIR224, CT47A10, CT47A11, CT47A12, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, DOCK11, ENOX2, EOLA1, EOLA2, ERAS, DUSP9, ATP11C, BCAP31, BCLAF3, BCOR, ATP1B4, BEND2, BCORL1, AWAT1, AWAT2, ATP2B3, DRP2, DUSP21, COX7B, CPXCR1, ZXDA, ZXDB, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TRMT2B, TRO, TXLNG, UBA1, USP11, USP26, USP27X, USP51, SSX7, SUV39H1, SYAP1, TAF9B, SSX4, SSX4B, SRPK3, SRPX, SSX5, TAF1, TAF7L, TASL, SCML1, S100G, SAGE1, RPL36A-HNRNPH2, RPGR, RPL36A, RPL39, RPS4X, RTL8B, RTL8C, RTL9, SASH3, SAT1, SATL1, RTL4, RTL5, RTL8A, PNMA5, PNMA6A, POF1B, POLA1, PAGE4, PAGE5, PRAF2, PIR, PJA1, PLAC1, PNMA6E, PCSK1N, PCYT1B, PIN4, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PDHA1, PDK3, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHEX, PHF6, PHF8, PHKA1, PHKA2, PIGA, PIM2, PLP1, PLP2, PLS3, PLXNB3, PNCK, PNMA3, PORCN, POU3F4, PPEF1, PPP1R3F, PQBP1, PRDX4, PRICKLE3, PRPS1, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PWWP3B, RAB33A, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAI2, RAP2C, RBBP7, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RENBP, REPS2, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPS6KA3, RPS6KA6, RRAGB, RS1, RTL3, SCML2, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SH3KBP1, SHROOM4, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMPX, SMS, SNORA11, SNX12, SOWAHD, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, STAG2, STARD8, STEEP1, STK26, SUPT20HL1, SUPT20HL2, SYN1, SYP, SYTL4, SYTL5, TAB3, TBC1D25, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMSB15A, UBE2A, UBE2NL, UBQLN2, UPF3B, UPRT, USP9X, UTP14A, UXT, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF185, ZNF275, ZNF280C, ZNF41, ZNF449, ZNF674, ZNF711, ZNF75D, ZNF81, ZRSR2, ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMER1, AMMECR1, AMOT, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX3-AS1, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARX, ASB11, ASB12, ATP6AP2, ATP7A, ATRX, AVPR2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BMP15, BMX, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CETN2, CFAP47, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN5, CLDN2, CLTRN, CNGA2, CNKSR2, COL4A5, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTPS2, CUL4B, CXCR3, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DLG3, DMD, EBP, EDA, EDA2R, EFHC2, EFNB1, ERCC6L, ESX1, F9, FAAH2, FAM104B, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM47A, FAM47B, FAM47C, FATE1, FGD1, FGF13, FGF16, FHL1, FMR1, FMR1-AS1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FTHL17, FTSJ1, FTX, FUNDC1, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GK, GLA, GLOD5, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPR101, GPR119, GPR173, GRPR, GSPT2, GUCY2F, H2AP, H2BW1, H2BW2, HAUS7, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, L1CAM, LAMP2, LANCL3, LAS1L, LDOC1, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MECP2, MED12, MED14, MID1IP1, MID2, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MPC1L, MSN, MTM1, MTMR1, MTMR8, MTRNR2L10, NAA10, NALF2, NAP1L2, NAP1L3, NDP | | Syndromic X-linked intellectual disability Lubs type | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:153296324
- GRCh38:
- ChrX:154030873
| MECP2 | V319M, V331M, V226M, V96M | X-linked intellectual disability-psychosis-macroorchidism syndrome, Severe neonatal-onset encephalopathy with microcephaly, Autism, susceptibility to, X-linked 3,
Syndromic X-linked intellectual disability Lubs type, Rett syndrome | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153174571-153609996
| ARHGAP4, EMD, FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 | | Syndromic X-linked intellectual disability Lubs type | Pathogenic
(Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153363100-153363102
- GRCh38:
- ChrX:154097643-154097645
| LOC130068854, MECP2 | A8del | Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly,
X-linked intellectual disability-psychosis-macroorchidism syndrome, Autism, susceptibility to, X-linked 3, Syndromic X-linked intellectual disability Lubs type,
Inborn genetic diseases, not provided | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296079-153296124
- ChrX:153296291-153296292
- GRCh38:
- ChrX:154030628-154030673
- ChrX:154030840-154030841
| MECP2, MECP2 | L293fs, L398fs, L163fs, K331fs, K238fs, K343fs, K108fs | not provided | Pathogenic
(Apr 3, 2015) | no assertion criteria provided |
|
| MECP2 | | Syndromic X-linked intellectual disability Lubs type | Pathogenic
(Mar 13, 2015) | criteria provided, single submitter |
|
| MECP2 | | Syndromic X-linked intellectual disability Lubs type | Pathogenic
(Mar 13, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153363099-153363100
- GRCh38:
- ChrX:154097642-154097643
| LOC130068854, MECP2 | | Rett syndrome | Benign
(Dec 8, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296078-153296178
- GRCh38:
- ChrX:154030627-154030727
| MECP2 | H379fs, H274fs, H144fs | Syndromic X-linked intellectual disability Lubs type, Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome,
Severe neonatal-onset encephalopathy with microcephaly | Pathogenic
(Jul 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153296266
- GRCh38:
- ChrX:154030815
| MECP2 | T338S, T350S, T245S, T115S | not specified, Rett syndrome, Syndromic X-linked intellectual disability Lubs type,
Autism, susceptibility to, X-linked 3, Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome,
Severe neonatal-onset encephalopathy with microcephaly | Uncertain significance
(May 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296674
- GRCh38:
- ChrX:154031223
| MECP2 | A202V, A214V, A109V | not specified, Syndromic X-linked intellectual disability Lubs type, Rett syndrome,
Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome, Autism, susceptibility to, X-linked 3,
Severe neonatal-onset encephalopathy with microcephaly | Benign/Likely benign
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153295846
- GRCh38:
- ChrX:154030395
| MECP2 | R478Q, R490Q, R385Q, R255Q | Rett syndrome | Likely benign
(Feb 18, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296024
- GRCh38:
- ChrX:154030573
| MECP2 | P419S, P431S, P326S, P196S | Rett syndrome | Benign
(Apr 28, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296904
- GRCh38:
- ChrX:154031453
| MECP2 | | Rett syndrome | Pathogenic
(Mar 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296337
- GRCh38:
- ChrX:154030886
| MECP2 | | History of neurodevelopmental disorder, not specified, not provided,
Syndromic X-linked intellectual disability Lubs type, Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly,
Autism, susceptibility to, X-linked 3, X-linked intellectual disability-psychosis-macroorchidism syndrome, Severe neonatal-onset encephalopathy with microcephaly,
Rett syndrome | Benign/Likely benign
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296443
- GRCh38:
- ChrX:154030992
| MECP2 | A279V, A291V, A186V, A56V | Syndromic X-linked intellectual disability Lubs type, Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly,
X-linked intellectual disability-psychosis-macroorchidism syndrome | Uncertain significance
(Oct 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153296477
- GRCh38:
- ChrX:154031026
| MECP2 | R268W, R280W, R175W, R45W | Rett syndrome | Uncertain significance
(Oct 28, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296692
- GRCh38:
- ChrX:154031241
| MECP2 | T196S, T208S, T103S | History of neurodevelopmental disorder, not specified, not provided,
Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome, Syndromic X-linked intellectual disability Lubs type,
Rett syndrome, Autism, susceptibility to, X-linked 3, Severe neonatal-onset encephalopathy with microcephaly,
Rett syndrome | Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296762
- GRCh38:
- ChrX:154031311
| MECP2 | P173A, P185A, P80A | Rett syndrome | Likely benign
(Oct 11, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296824
- GRCh38:
- ChrX:154031373
| MECP2 | P152R, P164R, P59R | Rett syndrome | Pathogenic
(Oct 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296013
- GRCh38:
- ChrX:154030562
| MECP2 | | not specified, Syndromic X-linked intellectual disability Lubs type, Rett syndrome,
Severe neonatal-onset encephalopathy with microcephaly, Autism, susceptibility to, X-linked 3, X-linked intellectual disability-psychosis-macroorchidism syndrome,
Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome | Benign/Likely benign
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296072-153296115
- GRCh38:
- ChrX:154030621-154030664
| MECP2 | | Rett syndrome | Pathogenic
(Mar 24, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296119
- GRCh38:
- ChrX:154030668
| MECP2 | P387L, P399L, P294L, P164L | Rett syndrome | Benign
(Dec 13, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296079-153296124
- GRCh38:
- ChrX:154030628-154030673
| MECP2 | L293fs, L398fs, L163fs | not provided, Severe neonatal-onset encephalopathy with microcephaly, Syndromic X-linked intellectual disability Lubs type
| Pathogenic
(Aug 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296141
- GRCh38:
- ChrX:154030690
| MECP2 | V380M, V392M, V287M, V157M | Rett syndrome | Benign
(Dec 13, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296074
- GRCh38:
- ChrX:154030623
| MECP2 | P402L, P414L, P309L, P179L | Rett syndrome | Benign
(May 11, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296677
- GRCh38:
- ChrX:154031226
| MECP2 | A201V, A213V, A108V | Rett syndrome | Benign
(May 10, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153297825
- GRCh38:
- ChrX:154032374
| MECP2 | | History of neurodevelopmental disorder, not specified, Syndromic X-linked intellectual disability Lubs type,
Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome, Autism, susceptibility to, X-linked 3,
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
| Benign/Likely benign
(Oct 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296382
- GRCh38:
- ChrX:154030931
| MECP2 | | History of neurodevelopmental disorder, not specified, Severe neonatal-onset encephalopathy with microcephaly,
Syndromic X-linked intellectual disability Lubs type, Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome,
Autism, susceptibility to, X-linked 3, not provided, Rett syndrome,
Severe neonatal-onset encephalopathy with microcephaly | Benign/Likely benign
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296473
- GRCh38:
- ChrX:154031022
| MECP2 | G176fs, G269fs, G281fs, G46fs | Rett syndrome | Pathogenic
(Mar 9, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153295906
- GRCh38:
- ChrX:154030455
| MECP2 | R458H, R470H, R365H, R235H | not specified, not provided, Severe neonatal-onset encephalopathy with microcephaly,
Syndromic X-linked intellectual disability Lubs type, Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome,
Autism, susceptibility to, X-linked 3, Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
| Benign/Likely benign
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296090
- GRCh38:
- ChrX:154030639
| MECP2 | E397K, E409K, E304K, E174K | Rett syndrome | Benign
(May 10, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296381
- GRCh38:
- ChrX:154030930
| MECP2 | V300I, V312I, V207I, V77I | Inborn genetic diseases, Rett syndrome, Syndromic X-linked intellectual disability Lubs type
| Conflicting interpretations of pathogenicity
(Sep 7, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153296825
- GRCh38:
- ChrX:154031374
| MECP2 | P152A, P164A, P59A | Rett syndrome | Likely pathogenic
(Mar 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh38:
- ChrX:153884414-154363935
| LOC130068841, LOC130068842, LOC130068843, LOC130068854, LOC130068855, TMEM187, LOC130068844, LOC130068845, LOC130068846, OPN1MW, OPN1MW2, LOC129929051, LOC130068837, LOC130068838, LOC130068847, LOC130068848, LOC130068849, OPN1MW3, OPSIN-LCR, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068840, RENBP, TEX28, HCFC1-AS1, IRAK1, LOC130068839, TKTL1, ARHGAP4, AVPR2, FLNA, HCFC1, L1CAM, L1CAM-AS1, LOC107988032, LOC111365170, LOC116309162, LOC125467793, LOC129929050, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW | | Syndromic X-linked intellectual disability Lubs type | Pathogenic
(Jun 1, 2010) | no assertion criteria provided |
| - GRCh37:
- ChrX:153296516
- GRCh38:
- ChrX:154031065
| MECP2 | R255*, R267*, R162*, R32* | MECP2-Related Disorders, Inborn genetic diseases, not provided,
Autism, susceptibility to, X-linked 3, X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome,
Syndromic X-linked intellectual disability Lubs type, Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly,
Rett syndrome, Abnormality of the nervous systemNeurodevelopmental delay,
...see more | Pathogenic/Likely pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296363
- GRCh38:
- ChrX:154030912
| MECP2 | R306C, R318C, R213C, R83C | Rett syndrome | Pathogenic
(Mar 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296860
- GRCh38:
- ChrX:154031409
| MECP2 | A140V, A152V, A47V | Neurodevelopmental disorder, Inborn genetic diseases, not provided,
Autism, susceptibility to, X-linked 3, X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome,
Syndromic X-linked intellectual disability Lubs type, Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly,
Rett syndrome, Autism, susceptibility to, X-linked 3Syndromic X-linked intellectual disability Lubs type,
X-linked intellectual disability-psychosis-macroorchidism syndrome, Motor delay, Stenosis of the external auditory canal,
Downslanted palpebral fissures, Hearing impairment, Intellectual disability,
Microcephaly, Postnatal growth retardation, Micrognathia,
Intellectual disability, ...see more | Pathogenic/Likely pathogenic
(Jul 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296399
- GRCh38:
- ChrX:154030948
| MECP2 | R294*, R306*, R201*, R71* | Rett syndrome | Pathogenic
(Mar 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrX:153296471
- GRCh38:
- ChrX:154031020
| MECP2 | R270*, R282*, R177*, R47* | Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome, not provided, X-linked intellectual disability-psychosis-macroorchidism syndrome,
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly, Syndromic X-linked intellectual disability Lubs type,
Autism, susceptibility to, X-linked 3, Autism, susceptibility to, X-linked 3, Severe neonatal-onset encephalopathy with microcephaly,
Syndromic X-linked intellectual disability Lubs type, Rett syndromeInborn genetic diseases,
...see more | Pathogenic
(Nov 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153297719
- GRCh38:
- ChrX:154032268
| MECP2 | R106W, R118W, R13W | Inborn genetic diseases, not specified, not provided,
Autism, susceptibility to, X-linked 3, X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome,
Syndromic X-linked intellectual disability Lubs type, Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly,
Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndromeAutism, susceptibility to, X-linked 3,
...see more | Pathogenic/Likely pathogenic
(Jan 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153296806
- GRCh38:
- ChrX:154031355
| MECP2 | T158M, T170M, T65M | Inborn genetic diseases, not specified, not provided,
Autism, susceptibility to, X-linked 3, X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome,
Syndromic X-linked intellectual disability Lubs type, Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly,
Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndromeAbnormality of the nervous system,
Neurodevelopmental delay, ...see more | Pathogenic/Likely pathogenic
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |