IllnessGAND syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion GAND syndrome
ID
GS9870
Number of genes
1
Accredited laboratory test
Examined sequence length
1,8 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 | Heredity |
---|---|---|---|
GATAD2B | 1782 | AD |
Informations about the disease
Synonyms
- Alias: GAND syndrome (GATAD2B)
- Alias: GATAD2B-Associated Neurodevelopmental Disorder (GATAD2B)
- Alias: Mental retardation, AD 18 (GATAD2B)
- Alias: Severe ID-poor language-strabismus-grimacing face-long fingers syndrome (GATAD2B)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
F84.-
Bioinformatics and clinical interpretation
No text defined