IllnessMainzer-Saldino syndrome
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
IFT140 | 4389 | NM_014714.4 | AR |
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