Lamellar Ichthyosis

Incidence and onset information

Alternative names

Lamellar Ichthyosis Is also known as congenital lamellar ichthyosis, li, classic lamellar ichthyosis.

Researches and researchers

Doctors, researchs, and experts related to Lamellar Ichthyosis extracted from public data.

Lamellar Ichthyosis Experts map

Current Researchs and researchers

• PARIS — Pr Alain HOVNANIAN

  Investigator of research project - Sponsor of orphan designation - Coordinator of research network - Coordinator of multinational clinical trial
  
  

  • Institution/s:
    — CHU Paris - Hôpital Necker-Enfants Malades
    — CHU Paris - Hôpital Necker-Enfants Malades
    — Institut Imagine - INSERM U1163, IMAGINE - Institut des Maladies Génétiques
  • Research area/topic::
    

    Réseau sur le syndrome de Netherton et les ichtyoses lamellaires



• ROMA — Dr Eleonora CANDI

  Investigator of research project
  
  

  • Institution/s:
    — A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
  • Research area/topic::
    

    Transglutaminases and their role in the pathogenesis of lamellar ichthyosis and acral peeling skin syndrome

Lamellar Ichthyosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories (United States). RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...) View the complete list with 139 more genes Panel complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYBB, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, DMD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, FMR1, ALDH3A2, G6PC, G6PD, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IL2RG, ABCD1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, MECP2, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, OCRL, OTC, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB Close Specificity 1 % Genes 12 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories (United States). RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...) View the complete list with 129 more genes Panel complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, ALDH3A2, G6PC, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB Close Specificity 1 % Genes 12 %
TGM1. By Institute for Human Genetics University Clinic Freiburg (Germany). TGM1 Specificity 100 % Genes 12 %
TGM1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TGM1 Specificity 100 % Genes 12 %
TGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TGM1 Specificity 100 % Genes 12 %
Autosomal Recessive Congenital Ichthyosis (sequence analysis of TGM1 gene). By CGC Genetics (Portugal). TGM1 Specificity 100 % Genes 12 %
Hereditary ichthyosis (NGS panel of 53 genes). By CGC Genetics (Portugal). SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL Specificity 6 % Genes 12 %
Hereditary ichthyosis (NGS panel of 53 genes). By CGC Genetics (Portugal). SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL Specificity 6 % Genes 12 %

Sources and references

You can check the following sources for additional information.

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