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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMeckel[-Gruber] syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Meckel[-Gruber] syndrome comprising 9 or altogether 21 curated genes according to the clinical signs

ID
MP5160
Number of genes
20 Accredited laboratory test
Examined sequence length
25,2 kb (Core-/Core-canditate-Genes)
47,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
B9D1615AR
CC2D2A4863AR
CEP2907440AR
MKS11680AR
RPGRIP1L3948AR
TCTN22094AR
TMEM216438AR
TMEM2311110AR
TMEM672988AR
B9D2528AR
CEP1202961AR
CEP411122AR
CSPP13666AR
KIF144947AR
NPHP33993AR
TCTN31824AR
TMEM107514AD
TMEM138489AR
TMEM2371227AR
TXNDC151088AR

Informations about the disease

Clinical Comment

Lethal, multiple congenital anomaly disorder with a triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys + polydactyly, associated abnormalities like cleft lip/palate, cardiac + genital anomalies, central nervous system malformations, liver fibrosis, bone dysplasia

 

Synonyms
  • Alias: Dysencephalia splanchnocystica
  • Allelic: Bardet-Biedl syndrome 13 (MKS1)
  • Allelic: Bardet-Biedl syndrome 14 (CEP290)
  • Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • Allelic: COACH syndrome (CC2D2A, RPGRIP1L, TMEM67)
  • Allelic: Leber congenital amaurosis 10 (CEP290)
  • Allelic: Microcephaly 20, primary, AR (KIF14)
  • Allelic: Nephronophthisis 11 (TMEM67)
  • Allelic: Nephronophthisis 3 (NPHP3)
  • Allelic: RHYNS syndrome (TMEM67)
  • Allelic: Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
  • Allelic: Senior-Loken syndrome 6 (CEP290)
  • Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
  • Joubert syndrome 14 (TMEM237)
  • Joubert syndrome 15 (CEP41)
  • Joubert syndrome 16 (TMEM138)
  • Joubert syndrome 17 (CPLANE1)
  • Joubert syndrome 18 (TCTN3)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 20 (TMEM231)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 24 (TCTN2)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 29 (TMEM107)
  • Joubert syndrome 31 (CEP120)
  • Joubert syndrome 34 (B9D2)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 9 (CC2D2A)
  • Meckel syndrome 1 (MKS1)
  • Meckel syndrome 10 (B9D2)
  • Meckel syndrome 11 (TMEM231)
  • Meckel syndrome 12 (KIF14)
  • Meckel syndrome 13 (TMEM107)
  • Meckel syndrome 2 (TMEM216)
  • Meckel syndrome 3 (TMEM67)
  • Meckel syndrome 4 (CEP290)
  • Meckel syndrome 5 (RPGRIP1L)
  • Meckel syndrome 6 (CC2D2A)
  • Meckel syndrome 7 (NPHP3)
  • Meckel syndrome 8 (TCTN2)
  • Meckel syndrome 9 (B9D1)
  • Meckel[-Gruber] syndrome [panelapp] (TXNDC15)
  • Orofaciodigital syndrome IV (TCTN3)
  • Orofaciodigital syndrome VI (CPLANE1)
  • Orofaciodigital syndrome XVI (TMEM107)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q89.8

Bioinformatics and clinical interpretation

No text defined