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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessMcKusick-Kaufman syndrome; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for McKusick-Kaufman syndrome comprising altogether 8 curated genes according to the clinical signs

ID
MP4449
Number of genes
8 Accredited laboratory test
Examined sequence length
1,8 kb (Core-/Core-canditate-Genes)
23,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MKKS1713NM_018848.3AR
BBS102172NM_024685.4AR
BBS122133NM_152618.3AR
BBS22166NM_031885.5AR
EVC2979NM_153717.3AD, AR
EVC23927NM_147127.5AD, AR
GLI34743NM_000168.6AD
TRPS13885NM_014112.5AD

Informations about the disease

Synonyms
  • Alias: Hydrometrocolpos-postaxial polydactyly syndrome
  • Alias: Kaufman-Mckusick syndrome
  • Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
  • Allelic: Polydactyly, preaxial, type IV (GLI3)
  • Allelic: Weyers acrofacial dysostosis (EVC)
  • Bardet-Biedl syndrome 10 (BBS10)
  • Bardet-Biedl syndrome 12 (BBS12)
  • Bardet-Biedl syndrome 6 (MKKS)
  • Ellis-van Creveld syndrome (EVC)
  • Greig cephalopolysyndactyly syndrome (GLI3)
  • McKusick-Kaufman syndrome (MKKS)
  • Pallister-Hall syndrome (GLI3)
  • Trichorhinophalangeal syndrome, type I + III (TRPS1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined