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

IllnessKenny-Caffey syndrome 1 + 2

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Summary

Short information

A panel comprising 2 curated genes for the comprehensive analysis of Kenny-Caffey syndrome

ID
KP6119
Number of genes
0 Accredited laboratory test
Examined sequence length
0,0 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

No genes linked

Informations about the disease

Clinical Comment

KCS 1: TBCE-Gen

KCS 2: FAM111A-Gen

 

Synonyms
  • Alias: Dwarfism, cortical thickening of tubular bones + transient hypocalcemia (FAM111A)
  • Alias: Kenny syndome (FAM111A)
  • Alias: Kenny-Caffey syndrome, AR (TBCE)
  • Allelic: Encephalopathy, progressive, with amyotrophy and optic atrophy (TBCE)
  • Allelic: Gracile bone dysplasia (FAM111A)
  • Allelic: Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
  • Kenny-Caffey syndrome, type 1 (TBCE)
  • Kenny-Caffey syndrome, type 2 (FAM111A)
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined