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)
- (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 |
---|---|---|---|---|
DNMT3A | 2739 | NM_175629.2 | AD |
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