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

IllnessTatton-Brown-Rahman syndrome

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Tatton-Brown-Rahman syndrome

ID
TS0050
Number of genes
1 Accredited laboratory test
Examined sequence length
2,8 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
DNMT3A2739NM_175629.2AD

Informations about the disease

Clinical Comment

Multiple congenital anomalies with greater hight, mild to moderate intellectual disability + distinctive facial appereance like round face, heavy, horizontal eyebrows + narrow palpebral fissures

 

Synonyms
  • Symptoms: Tall stature, distinctive facial appearance, intellectual disability
  • Alias: DNMT3A-related overgrowth syndrome (DNMT3A)
  • Alias: Tall stature-intellectual disability-facial dysmorphism syndrome (DNMT3A)
  • Alias: Tatton-Brown-Rahman overgrowth syndrome (DNMT3A)
  • Allelic: Heyn-Sproul-Jackson syndrome (DNMT3A)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined