Deutsch
IllnessMandibulofacial dysostosis-microcephaly syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Mandibulofacial dysostosis-microcephaly syndrome comprising altogether 16 curated genes according to the clinical signs
ID
MP7112
Number of genes
15
Accredited laboratory test
Examined sequence length
3,0 kb (Core-/Core-canditate-Genes)
24,2 kb (Extended panel: incl. additional genes)
24,2 kb (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 |
|---|---|---|---|---|
| EFTUD2 | 2919 | NM_004247.4 | AD | |
| CHD7 | 8994 | NM_017780.4 | AD | |
| DHODH | 1188 | NM_001361.5 | AR | |
| POLR1C | 1041 | NM_203290.4 | AR | |
| POLR1D | 402 | NM_015972.4 | AD, AR | |
| RPL11 | 537 | NM_000975.5 | AD | |
| RPL35A | 333 | NM_000996.4 | AD | |
| RPL5 | 894 | NM_000969.5 | AD | |
| RPS10 | 498 | NM_001014.5 | AD | |
| RPS17 | 408 | NM_001021.6 | AD | |
| RPS19 | 438 | NM_001022.4 | AD | |
| RPS24 | 393 | NM_033022.4 | AD | |
| RPS26 | 348 | NM_001029.5 | AD | |
| SF3B4 | 1275 | NM_005850.5 | AD | |
| TCOF1 | 4467 | NM_001135243.2 | AD |
Informations about the disease
Synonyms
- Alias: Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
- Alias: Mandibulofacial dysostosis-microcephaly syndrome (EFTUD2)
- Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
- Acrofacial dysostosis 1, Nager type (SF3B4)
- CHARGE [choanal atresia. malformations of heart, inner ear, retina] syndrome (CHD7)
- Craniofacial microsomia (SF3B2)
- Diamond-Blackfan anemia 1 (RPS19)
- Diamond-Blackfan anemia 10 (RPS26)
- Diamond-Blackfan anemia 3 (RPS24)
- Diamond-Blackfan anemia 5 (RPL35A)
- Diamond-Blackfan anemia 6 (RPL5)
- Diamond-Blackfan anemia 7 (RPL11)
- Diamond-Blackfan anemia 9 (RPS10)
- Diamond-Blackfan anemia 9 (RPS17)
- Mandibulofacial Dysostosis, Guion-Almeida Type (EFTUD2)
- Miller syndrome [postaxial acrofacial dysostosis] (DHODH)
- Treacher Collins syndrome 1 (TCOF1)
- Treacher Collins syndrome 2 (POLR1D)
- Treacher Collins syndrome 3 (POLR1C)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined