Fetal Akinesia Deformation Sequence

Incidence and onset information

Alternative names

Fetal Akinesia Deformation Sequence Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, arthrogryposis multiplex congenita with pulmonary hypoplasia, fads, pena-shokeir syndrome type 1, fetal akinesia sequence, pena-shokeir syndrome, type i.

Researches and researchers

Doctors, researchs, and experts related to Fetal Akinesia Deformation Sequence extracted from public data.

Fetal Akinesia Deformation Sequence Experts map

Current Researchs and researchers

• CORBEIL-ESSONNES — Pr Judith MELKI

  Coordinator of expert centre - Clinical expert - Clinical geneticist - Investigator of research project
  
  

  • Institution/s:
    — INSERM UMR 788, CHU Paris-Sud - Hôpital de Bicêtre
    — Pôle Femme, Mère, Enfant, Centre Hospitalier Sud Francilien
    — CHU Paris-Sud - Hôpital de Bicêtre
  • Research area/topic::
    

    Sequencing of the whole exome in arthrogryposes and fetal akeesias with a gene not identified by the targeted exome



• LE KREMLIN-BICÊTRE — Pr Judith MELKI

  Coordinator of expert centre - Clinical expert - Clinical geneticist - Investigator of research project
  
  

  • Institution/s:
    — INSERM UMR 788, CHU Paris-Sud - Hôpital de Bicêtre
    — Pôle Femme, Mère, Enfant, Centre Hospitalier Sud Francilien
    — CHU Paris-Sud - Hôpital de Bicêtre
  • Research area/topic::
    

    Sequencing of the whole exome in arthrogryposes and fetal akeesias with a gene not identified by the targeted exome

Fetal Akinesia Deformation Sequence Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Myasthenic Syndrome Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, AGRN, GFPT1, MUSK, RAPSN Specificity 24 % Genes 75 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...) View the complete list with 124 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Close Specificity 3 % Genes 75 %
Congenital Contractures Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...) View the complete list with 37 more genes Panel complete gene list SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, SCARF2, SLC39A13, CNTN1, ANTXR2, COL3A1, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, ERCC6, FBN1, FBN2, GLE1, RIPK4, LMNA, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, CNTNAP1, CHMP1A, PIP5K1C, PITX1, PLOD2, PLOD3, PSMB8, RAPSN Close Specificity 6 % Genes 75 %
Comprehensive Neuromuscular Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...) View the complete list with 59 more genes Panel complete gene list RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3, CAV3, LDB3, BSCL2, SELENON, TRIM32, SYNE2, SYNE1, FKRP, CFL2, CHAT, POMGNT1, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, COL6A1, COL6A2, COL6A3, COLQ, GNE, CRYAB, SIL1, MTMR14, DOK7, DAG1, ANO5, DES, PLEKHG5, DMD, DNM2, DYSF, EMD, FKTN, FHL1, ISPD, FLNC, GAA, GLE1, AMPD1, IGHMBP2, ITGA7, LAMA2, LARGE1, LMNA, MTM1, MUSK, MYH2, MYH7, NEB, PABPN1, PLEC, PMM2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Close Specificity 4 % Genes 75 %
Neuromuscular Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...) View the complete list with 91 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, FKRP, FKBP14, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, POMT2, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, CHST14, SIL1, TRAPPC11, ORAI1, POMK, DOK7, DAG1, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, DMD, MEGF10, DNM2, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, DYSF, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, HNRNPDL, HRAS, ITGA7, LAMA2, LAMB2, LAMP2, LARGE1, LMNA, LMOD3, LRP4, MTM1, MUSK, MYF6, MYH2, MYH7, MYL2, NEB, PLEC, BAG3, HACD1, PYGM, RAPSN Close Specificity 3 % Genes 75 %
Congenital Myasthenic Syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SCN4A, SNAP25, SYT2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, ALG2, DOK7, ALG14, DPAGT1, PREPL, AGRN, GFPT1, LRP4, MUSK, RAPSN Specificity 15 % Genes 75 %
Congenital Myasthenic Syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SCN4A, SNAP25, SYT2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, ALG2, DOK7, ALG14, DPAGT1, PREPL, AGRN, GFPT1, LRP4, MUSK, RAPSN Specificity 15 % Genes 75 %
Myasthenic syndrome associated with acetylcholine receptor deficiency (sequence analysis of MUSK gene). By CGC Genetics (Portugal). MUSK Specificity 100 % Genes 25 %

Sources and references

You can check the following sources for additional information.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 CAREY-FINEMAN-ZITER SYNDROME; CFZS CHROMOSOME 15q14 DELETION SYNDROME KABUKI SYNDROME 1; KABUK1