IllnessPrimrose syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Primrose syndrome containing 1 core gene and altogether 7 curated genes according to the clinical signs
ID
PP3332
Number of genes
7
Accredited laboratory test
Examined sequence length
2,3 kb (Core-/Core-canditate-Genes)
22,3 kb (Extended panel: incl. additional genes)
22,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Synonyms
- Alias: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Allelic: Fragile X tremor/ataxia syndrome (FMR1_CCG)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Meningioma (PTEN)
- Allelic: Premature ovarian failure 1 (FMR1_CCG)
- Allelic: Prostate cancer, somatic (PTEN)
- Allelic: Schizophrenia 15 (SHANK3)
- Allelic: Wilms tumor, somatic (GPC3)
- Cowden syndrome 1 (PTEN)
- Fragile X syndrome (FMR1_CCG)
- Keipert syndrome (GPC4)
- Lhermitte-Duclos syndrome (PTEN)
- Macrocephaly/autism syndrome (PTEN)
- Phelan-McDermid syndrome (SHANK3)
- Primrose syndrome (ZBTB20)
- Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
- Sotos syndrome 1 (NSD1)
Heredity, heredity patterns etc.
- AD
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined