Mental Retardation, Autosomal Dominant 42; Mrd42

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Genes related to Mental Retardation, Autosomal Dominant 42; Mrd42

GNB1

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Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 42; Mrd42

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Nystagmus
Failure to thrive
Strabismus
Cleft palate
Visual impairment

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Mental Retardation, Autosomal Dominant 42; Mrd42 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...) View the complete list with 150 more genes Panel complete gene list BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH, TIMM8A, NKX2-1, TPI1, TREX1, XK, XPR1, VPS35, FBXO7, ANO3, HTRA2, NPC2, PINK1, MICU1, DNAJC6, CBS, LRPPRC, BSCL2, KMT2B, PANK2, NDUFAF5, SAMHD1, APTX, DNAJC5, SLC19A3, PARK7, BCAP31, MCEE, COQ8A, MLC1, TPK1, ACY1, ARX, RNASEH2A, MMAA, IFIH1, VPS13A, MMAB, MECR, AARS, L2HGDH, TPP1, CLN3, CLN5, CLN6, TUBB4A, CLN8, THAP1, SLC39A14, AARS2, HACE1, SERAC1, FA2H, PDHX, COL4A1, ADAR, COX10, COX15, CP, UBA5, ADCY5, NDUFA12, RNASEH2C, TACO1, CSF1R, MMADHC, CTSD, CTSF, SLC30A10, C19orf12, VAC14, RNASEH2B, KCTD17, DCAF17, TTC19, CYP27A1, HEPACAM, FOXRED1, COX20, DDC, NDUFAF2, MFSD8, NDUFAF6, DNAJC12, WDR45, DLAT, TBC1D24, EARS2, TOR1AIP1, LIPT1, UQCRQ, COASY, ATP13A2, PRRT2, CLPB, TOR1A, AFG3L2, ECHS1, SDHAF1, FOXG1, FTL, FUCA1, GAMT, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, ALS2, GRN, HEXA, HIVEP2, HPCA, HPRT1, MDH2, MECP2, ARSA, MMUT, NDUFA10, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NPC1, ATM, ATP1A2, ATP1A3, NUP62, PRKN, ATP7B, PDGFB, PDGFRB, PDHA1, AUH, PLA2G6, PLP1, PNKD, PNKP, POLG, PPT1, PRKRA, PSEN1, PTS, QDPR Specificity 1 % Genes 100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...) View the complete list with 133 more genes Panel complete gene list RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2, TUBA8, TUBB2A, TUBG1, UBE3A, WWOX, FRRS1L, CNTNAP2, CACNA1A, CACNA1H, CACNB4, NPRL3, CAD, PCDH19, ARHGEF9, ZEB2, CASK, ARFGEF2, PLCB1, SLC19A3, SCARB2, BCKDK, PRICKLE1, CPA6, ACY1, ARX, SPATA5, ATP6AP2, DEPDC5, STX1B, IER3IP1, KCNT1, CHD2, DOCK7, TNK2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, AARS, CLCN2, MBD5, TPP1, CLN3, CLN5, TUBA1A, CLN6, TUBB3, CLN8, NACC1, FARS2, NHLRC1, BRAT1, KCTD7, SLC13A5, PIGO, CRH, NECAP1, CSTB, NPRL2, CTSD, CTSF, CARS2, PIGG, PIGV, DCX, MFSD8, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, DNM1, PNPO, PRRT2, SRPX2, TUBB2B, ALG13, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, MTOR, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GFAP, GNAO1, GNB1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, HCN1, HCN2, HNRNPU, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, MECP2, MEF2C, NEDD4L, ATP1A2, NRXN1, ATP1A3, ALDH7A1, PIGA, PNKP, POLG, PPT1, PLPBP, PURA, QARS, RELN Specificity 1 % Genes 100 %
GNB1. By Fulgent Genetics Fulgent Genetics (United States). GNB1 Specificity 100 % Genes 100 %
Comprehensive Epilepsy Panel. By Blueprint Genetics (Finland). SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...) View the complete list with 263 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1, SOX10, BTD, SPTAN1, CDKL5, STXBP1, SUOX, SYN1, SYNGAP1, SYNJ1, TAF1, TBCD, TBCE, TCF4, MED12, TREX1, TSC1, TSC2, UBE2A, UBE3A, WWOX, YY1, GFM1, SLC12A5, CNTNAP2, CACNA1A, CACNA1H, CACNB4, CERS1, PCDH19, ARHGEF9, GTPBP3, ZEB2, PIGT, CASK, CASR, GPHN, LRPPRC, NDUFAF5, PLCB1, SAMHD1, DNAJC5, SLC19A3, NFU1, EFHC1, RAB39B, SCARB2, MRPL44, PRICKLE1, MLC1, GJC2, ARX, SPATA5, PHF6, PRIMA1, DEPDC5, RNASEH2A, STX1B, KCNT1, MAGI2, VPS13A, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CLCN2, CLCN4, NUBPL, SUMF1, MBD5, APOPT1, L2HGDH, TPP1, CLN3, CLN5, ZFYVE26, CLN6, TUBB4A, CLN8, SLC39A8, NACC1, HACE1, SERAC1, FARS2, RMND1, FA2H, WDR26, NHLRC1, RNASET2, RNF216, BRAT1, KCTD7, COL4A1, ADAR, COX15, COX6B1, ABAT, SLC13A5, PIGO, UBA5, ETHE1, CPT2, GNE, RNASEH2C, CSF1R, NECAP1, FAM126A, CSTB, MARS2, CTSD, CTSF, DARS2, CUL4B, OFD1, RNASEH2B, TTC19, PIGV, CYP27A1, CTC1, FAR1, HEPACAM, UNC80, DARS, FOXRED1, DCX, DDC, IBA57, LYRM7, TBCK, D2HGDH, MFSD8, DHFR, NDUFAF6, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, EARS2, ROGDI, TBL1XR1, MTFMT, DNM1, DNM1L, HECW2, POLR3A, DPYD, DPYS, ATP13A2, CC2D1A, PNPO, PYCR2, POLR3B, PRRT2, SLC46A1, ALG13, AFG3L2, ECHS1, ECM1, AGA, EEF1A2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, SNORD118, SDHAF1, EPM2A, ETFA, ETFB, ETFDH, FGF12, FH, FLNA, FOLR1, FOXG1, MTOR, ALDH3A2, GABRA1, ALDH5A1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP, GLB1, GLDC, GLRB, GNAO1, GNB1, GOSR2, AMACR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, AMT, HSD17B10, HCN1, HTT, HIBCH, HNRNPU, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNQ2, KCNQ3, LGI1, ARG1, LMNB1, MECP2, MEF2C, ARSA, MOCS1, ASAH1, MTHFR, ASNS, ASPA, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NOTCH3, NRXN1, ATP1A3, OPHN1, AIFM1, ALDH7A1, ATRX, KIF1A, PGK1, SERPINI1, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PRODH, HTRA1, PSAP, PTS, PURA, QDPR, RARS, RELN Specificity 1 % Genes 100 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes. By Reference Laboratory Genetics (Spain). RPS6KA3, ST3GAL3, SLC6A8, SMARCA4, SMARCB1, ARID1A, KDM5C, STXBP1, SYNGAP1, SYP, TAF2, TSPAN7, MED12, TRIO, VLDLR, ZBTB18, ZNF711, FTSJ1, ERLIN2, CA8 , (...) View the complete list with 71 more genes Panel complete gene list RPS6KA3, ST3GAL3, SLC6A8, SMARCA4, SMARCB1, ARID1A, KDM5C, STXBP1, SYNGAP1, SYP, TAF2, TSPAN7, MED12, TRIO, VLDLR, ZBTB18, ZNF711, FTSJ1, ERLIN2, CA8, CNTNAP2, CACNG2, FMN2, NLGN4X, DEAF1, CASK, SETBP1, ADNP, ZMYND11, BRWD3, CDH15, ARID1B, ARX, POGZ, UPF3B, MBD5, ZC3H14, KIRREL3, CRADD, MED23, KANSL1, EHMT1, CTNNB1, NSUN2, TTI2, DLG3, WASHC4, SHROOM4, SOBP, TBL1XR1, DYNC1H1, DPP6, CRBN, CC2D1A, TUSC3, TRAPPC9, HUWE1, DYRK1A, LINS1, EPB41L1, ACSL4, FGD1, AFF2, GDI1, GNB1, TECR, GRIK2, GRIN1, GRIN2B, HERC2, ANK3, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, MAN1B1, ARHGEF6, MECP2, MEF2C, MYT1L, NDST1, NRXN1, OPHN1, PAK3, ATRX, KIF1A, PPP2R1A, PQBP1, PRSS12 Specificity 2 % Genes 100 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes. By Reference Laboratory Genetics (Spain). SMARCA4, SMARCB1, ARID1A, SYNGAP1, TRIO, ZBTB18, CACNG2, DEAF1, SETBP1, ADNP, ZMYND11, CDH15, ARID1B, POGZ, MBD5, KIRREL3, KANSL1, EHMT1, CTNNB1, TBL1XR1 , (...) View the complete list with 11 more genes Panel complete gene list SMARCA4, SMARCB1, ARID1A, SYNGAP1, TRIO, ZBTB18, CACNG2, DEAF1, SETBP1, ADNP, ZMYND11, CDH15, ARID1B, POGZ, MBD5, KIRREL3, KANSL1, EHMT1, CTNNB1, TBL1XR1, DYNC1H1, DPP6, DYRK1A, EPB41L1, GNB1, GRIN1, GRIN2B, MEF2C, MYT1L, KIF1A, PPP2R1A Specificity 4 % Genes 100 %

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Sources and references

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