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

IllnessMainzer-Saldino syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Mainzer-Saldino syndrome

ID
MS5170
Number of genes
1 Accredited laboratory test
Examined sequence length
4,4 kb (Core-/Core-canditate-Genes)
- (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-GReferenz-Seq.Heredity
IFT1404389NM_014714.4AR

Informations about the disease

Clinical Comment

Renal disease, retinal pigmentary dystrophy, cerebellar ataxia, skeletal dysplasia; Clinical overlap with Sensenbrenner syndrome - IFT122

 

Synonyms
  • Alias: Conorenal syndrome (IFT140)
  • Alias: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, skeletal dysplasia (IFT140)
  • Alias: Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia s. (IFT140)
  • Alias: Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
  • Allelic: Retinitis pigmentosa 80 (IFT140)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code
Q87.5

Bioinformatics and clinical interpretation

No text defined