Meckel Syndrome 12; Mks12

Description

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.

Genes related to Meckel Syndrome 12; Mks12

KIF14

Clinical Features

Top most frequent phenotypes and symptoms related to Meckel Syndrome 12; Mks12

Microcephaly
Growth delay
Micrognathia
Low-set ears
Intrauterine growth retardation
Wide nasal bridge
Anteverted nares
Cerebellar hypoplasia
Agenesis of corpus callosum
Polyhydramnios

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Meckel Syndrome 12; Mks12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Joubert/Meckel-Gruber syndrome Panel. By Genetic Services Laboratory University of Chicago in United States. INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7 , (...) View the complete list with 13 more genes Panel GTR000500621 complete gene list INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, B9D2, TCTN3, IFT172, KIAA0556, CEP104, CEP120, TMEM107, KIF14, PDE6D, CSPP1 Specificity 4 % Genes 100 %
Meckel Gruber Syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. CC2D2A, TMEM67, NPHP3, CEP290, MKS1, TMEM216, TMEM231, B9D1, TCTN2, RPGRIP1L, B9D2, TCTN3, TMEM107, KIF14, CSPP1 Specificity 7 % Genes 100 %
Renal Cystic Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. VHL, INVS, HNF1B, INPP5E, CC2D2A, JAG1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, XPNPEP3, IQCB1, BBS7, BBS5, BBS12 , (...) View the complete list with 55 more genes Panel GTR000531706 complete gene list VHL, INVS, HNF1B, INPP5E, CC2D2A, JAG1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TSC2, TSC1, CDC73, PKHD1, TMEM216, AHI1, UMOD, PKD2, OFD1, SALL1, DCDC2, TFAP2A, TMEM231, KIAA0586, IFT140, WDR19, WDPCP, SDCCAG8, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, CEP41, CPLANE1, GLIS2, ARL13B, B9D2, GLIS3, NOTCH2, TCTN3, IFT172, KIAA0556, CEP104, TMEM107, KIF14, PDE6D, CSPP1, CEP164, CEP83, ANKS6, BMPER, CRB2, MUC1, REN Specificity 2 % Genes 100 %
Meckel Gruber Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. CC2D2A, TMEM67, NPHP3, CEP290, MKS1, TMEM216, TMEM231, B9D1, TCTN2, RPGRIP1L, B9D2, TCTN3, TMEM107, KIF14, CSPP1 Specificity 7 % Genes 100 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7 , (...) View the complete list with 13 more genes Panel GTR000560685 complete gene list INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, B9D2, TCTN3, IFT172, KIAA0556, CEP104, CEP120, TMEM107, KIF14, PDE6D, CSPP1 Specificity 4 % Genes 100 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41 , (...) View the complete list with 8 more genes Panel GTR000505675 complete gene list INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, B9D2, TCTN3, KIF14, PDE6D, CSPP1, ZNF423 Specificity 4 % Genes 100 %
Ciliopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9 , (...) View the complete list with 73 more genes Panel GTR000505776 complete gene list INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TMEM216, AHI1, OFD1, DCDC2, TMEM231, NODAL, FOXH1, DNAH8, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, GDF1, CEP41, CPLANE1, GLIS2, ARL13B, LEFTY2, ACVR2B, B9D2, CFAP53, TCTN3, KIF14, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6 Specificity 2 % Genes 100 %
Joubert syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...) View the complete list with 17 more genes Panel GTR000560982 complete gene list INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, B9D2, TCTN3, C2CD3, KIAA0556, CEP104, CEP120, TMEM107, KIF14, PDE6D, CSPP1, ZNF423, PIBF1, ARMC9 Specificity 3 % Genes 100 %
Joubert syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...) View the complete list with 17 more genes Panel GTR000560984 complete gene list INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, B9D2, TCTN3, C2CD3, KIAA0556, CEP104, CEP120, TMEM107, KIF14, PDE6D, CSPP1, ZNF423, PIBF1, ARMC9 Specificity 3 % Genes 100 %
Joubert syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...) View the complete list with 17 more genes Panel GTR000560985 complete gene list INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, B9D2, TCTN3, C2CD3, KIAA0556, CEP104, CEP120, TMEM107, KIF14, PDE6D, CSPP1, ZNF423, PIBF1, ARMC9 Specificity 3 % Genes 100 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CYP11B1, RRM2B, SLC25A13, SDHC, HADHA, FH, CYP11B2, PDSS2, COQ6, SARS2, FAH, HMGCL, CCDC28B, XPNPEP3, G6PC, CYP24A1, SDHB, SLC9A3R1, SUCLA2, IQCB1, HADHB, ALG8, COQ2, PCCB, PCCA, STRA6, OTC, XDH, MMADHC, LMBRD1, PGAM2, CUBN, AGXT, CA2, MMAB, MMAA, MUT, SUCLG1, CBS, PYGM, ETFB, ETFA, ETFDH, GCDH, GALT, FASTKD2, COX6B1, SLC3A1, ASS1, SLC22A5, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ASL, ALMS1, CYP17A1, TMEM127, LMX1B, MEN1, PAX2, TACO1, SDHA, ABCD4, APRT, DHCR7, GLA, HRAS, NPC1, VDR, TSC2, TSC1, NF2, SDHD, FLCN, MET, MAX, SBDS, PRKAR1A, CDC73, RAD51C, COL4A3, CTNS, PEX2, NPHS2, NPHS1, PEX7, SLC7A7, GRHPR, MPL, PEX1, PKHD1, TMEM216, WNK1, AHI1, ATXN10, NF1, CASR, ANOS1, HSD11B2, HNF4A, INF2, UMOD, COL4A4, LAMB2, AVPR2, AQP2, PHEX, SLC12A3, ACTN4, SCNN1A, SCNN1G, SCNN1B, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, FGF23, KCNA1, CACNA1H, SCARB2, TBC1D24, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CACNA1D, DCDC2, SIX5, PRPS1, SIX1, GATA3, MYH9, PEX6, TMEM231, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX5, KAT6B, WDR35, CLCNKA, MVK, SOX18, PTH1R, AGTR2, MAGT1, TNXB, KCNJ5, POC1B, IFT140, SLC4A4, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PGK1, MEFV, ACE, SALL4, JAK3, CD2AP, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, GNAS, NR3C2, CFHR1, CFHR3, DGKE, ADAMTS13, APOL1, CDKN1B, KLHL3, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, PIK3CA, COX10, IFT122, PCBD1, APOA1, GREM1, B9D2, LCAT, SLC2A2, GLIS3, EIF2AK3, FGA, VPS33B, FREM1, BMP4, IKZF1, TNFRSF13B, COQ8B, SLC4A1, ATP6V0A4, RBM8A, LRBA, ITGA3, NFKB2, SMARCAL1, CD19, CR2, CD81, HOGA1, ICOS, TNFRSF13C, PRKCSH, MS4A1, NOTCH2, TCTN3, IFT74, IFT172, KIAA0556, CEP104, CEP120, KIF14, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, GRIP1, FREM2, WNT4, CCNQ, FRAS1, NEK1, WDR60, LRP4, CFHR4, CRB2, MUC1, REN, LRP2, STX16, GCM2, ENPP1, CLCN5, SLC34A3, DMP1, DICER1, SERAC1, SLC6A19, COA5, APOPT1, WDR73, LAMC1, KANK2, MYO1E, GALNT3, CUL3, WNK4, CLDN16, CLDN19, SLC22A12, LIFR, EIF2AK4, SLC2A9, SEC63, PEX11B, SEC61A1, GANAB, SLC7A9, FXYD2, SLC5A2, UROD, KL, TRPM6, HMBS, SLC26A3, LRIG2, DIS3L2, GUCY2C, NFKB1, IL21, LYZ, HPSE2, TALDO1, CNNM2, EGF, SOX17, AGT, ARHGDIA, MAFB, ROBO2, BICC1, SLC16A12, CHRM3, WDR34, EMP2, PTPRO, ITGA8, FGF20, ANLN, EHHADH, ALAD, KANK1, TBX18, CFHR2, AGTR1, UPK3A, TRAP1, LAMA5, SGPL1, XPO5, KANK4, FAT1, NUP205, NUP93, NUP107, ARHGAP24, SIX2, BMP7, CDC5L, CHD1L, DSTYK, FAN1, FN1, PDE3A, SLC26A1, MOCOS, MAPKBP1, RMND1, IFT52, DYNC2LI1, MAGED2, NRIP1, KCNMB1, SLC22A10, SLC36A2, SLC41A1, TBC1D1, MAGEC1, SLC6A20, KANK3, TMEM260, CLDN10 Specificity 1 % Genes 100 %
KIF14. By Fulgent Genetics Fulgent Genetics in United States. KIF14 Specificity 100 % Genes 100 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CYP11B1, PDSS2, COQ6, C8orf37, SARS2, FAH, XPNPEP3, CYP24A1, SLC9A3R1, IQCB1, ALG1, COQ2, XDH, CUBN, AGXT, CA2, SLC3A1, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LMX1B, PAX2, GSN, APRT, CHD7, CREBBP, DHCR7, GLA, VDR, TSC2, TSC1, GPC3, COL4A3, CTNS, NPHS2, NPHS1, GRHPR, SLC17A5, PKHD1, TMEM216, LMNA, WNK1, APOE, AHI1, ATXN10, FGFR1, CASR, ANOS1, HSD11B2, HNF4A, INF2, UMOD, COL4A4, LAMB2, AVPR2, AQP2, PHEX, ACTN4, SCNN1A, SCNN1G, SCNN1B, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, FGF23, CACNA1H, SCARB2, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CD151, CACNA1D, COL4A6, NLRP3, SIX5, SIX1, GATA3, MYH9, SEMA3E, FOXP1, WDR35, CLCNKA, TNXB, GLI3, KCNJ5, DHTKD1, IFT140, SLC4A4, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ZMPSTE24, MEFV, SALL4, CD2AP, CFI, NR3C2, DGKE, APOL1, KLHL3, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, IFT122, APOA1, GREM1, B9D2, SLC2A2, FGA, VPS33B, VIPAS39, FREM1, BMP4, COQ8B, SLC4A1, ATP6V0A4, ITGA3, ITGB4, TNFRSF1A, SMARCAL1, HOGA1, NOTCH2, TCTN3, C2CD3, IFT74, IFT172, TMEM107, KIF14, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, GRIP1, FREM2, WNT4, NEK1, CRB2, ENPP1, CLCN5, SLC34A3, DMP1, SRGAP1, WDR73, B2M, GDNF, MYO1E, CUL3, WNK4, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, FXYD2, SLC5A2, SLC5A1, TRPM6, LYZ, CNNM2, EGF, SOX17, ARHGDIA, ROBO2, PBX1, EMP2, PTPRO, ITGA8, KCTD1, FGF20, ANLN, EHHADH, TBX18, AGTR1, UPK3A, TRAP1, SGPL1, XPO5, FAT1, NUP205, NUP93, NUP107, ARHGAP24, SIX2, CHD1L, DSTYK, FAN1, FN1, ADCY10, MAGED2, SLC41A1, DACH1, E2F3, DLC1, KIF12, SLIT2, DLG1 Specificity 1 % Genes 100 %
Ciliopathy Panel. By Blueprint Genetics in Finland. INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, C8orf37, IQCB1, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9 , (...) View the complete list with 79 more genes Panel GTR000552623 complete gene list INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, C8orf37, IQCB1, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, DHCR7, PKHD1, TMEM216, AHI1, PKD2, PKD1, PNPLA6, OFD1, DCDC2, TMEM231, KIAA0586, WDR35, USP9X, NODAL, GLI2, GLI3, CFAP410, POC1B, IFT140, CENPF, WDR19, LZTFL1, BBIP1, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, IFT122, LEFTY2, ACVR2B, B9D2, TCTN3, C2CD3, IFT172, KIAA0556, CEP104, CEP120, TMEM107, KIF14, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, CCNQ, NEK1, WDR60, CRB2, HYLS1, DDX59, IFT81, MAPKBP1, KIAA0753, DYNC2LI1, TRAF3IP1, ARMC9 Specificity 2 % Genes 100 %
Meckel Syndrome Panel. By Blueprint Genetics in Finland. CC2D2A, TMEM67, NPHP3, CEP290, MKS1, TMEM216, TMEM231, B9D1, TCTN2, RPGRIP1L, B9D2, TMEM107, KIF14 Specificity 8 % Genes 100 %

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