IllnessCraniofacial microsomia, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Craniofacial microsomia, differential diagnosis, comprising 8 or 21 curated genes according to the clinical signs
ID
CP3444
Number of genes
21
Accredited laboratory test
Examined sequence length
25,1 kb (Core-/Core-canditate-Genes)
48,6 kb (Extended panel: incl. additional genes)
48,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
CHD7 | 8994 | AD | |
DHODH | 1188 | AR | |
EYA1 | 1779 | AD | |
POLR1C | 1041 | AR | |
POLR1D | 402 | AR | |
SALL1 | 3975 | AD | |
SALL4 | 3162 | AD | |
TCOF1 | 4467 | AD | |
CHN1 | 1302 | AD | |
EDNRA | 1284 | AD | |
EFTUD2 | 2919 | AD | |
GNAI3 | 1065 | AD | |
LMNA | 1995 | n.k. | |
MAFB | 972 | AR | |
MYT1 | 3366 | AD | |
PLCB4 | 3585 | AD, AR | |
SF3B4 | 1275 | AD | |
SIX1 | 855 | AR | |
SIX5 | 2220 | AD | |
TFAP2A | 1296 | AD | |
ZMPSTE24 | 1428 | AR |
Informations about the disease
Clinical Comment
Group of diseases: (Hemifacial) microsomia associated with ear and/or eye malformations of variable severity. Additional malformations involving vertebrae, heart, kidneys, central nervous, digestive + skeletal systems may be associated.
Synonyms
- Alias: Oculo-auriculo-vertebral spectrum
- Allelic: Anterior segment anomalies with/-out cataract (EYA1)
- Allelic: Branchiootic syndrome 3 (SIX1)
- Allelic: Deafness, autosomal dominant 23 (SIX1)
- Allelic: Hypogonadotropic hypogonadism 5 with or without anosmia (CHD7)
- Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
- Allelic: Migraine, resistance to (EDNRA)
- Allelic: Multicentric carpotarsal osteolysis syndrome (MAFB)
- Allelic: Restrictive dermopathy, lethal (ZMPSTE24)
- Allelic: Townes-Brocks syndrome 1 (SALL1)
- Acrofacial dysostosis (SF3B4)
- Auriculocondylar syndrome 1 (GNAI3)
- Auriculocondylar syndrome 2 (PLCB4)
- Branchiooculofacial syndrome (TFAP2A)
- Branchiootic syndrome (EYA1)
- Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
- Branchiootorenal syndrome 2 (SIX5)
- CHARGE syndrome (CHD7)
- Duane retraction syndrome 2 (CHN1)
- Duane retraction syndrome 3 (MAFB)
- Duane-radial ray [Okihiro] syndrome (SALL4)
- IVIC syndrome (SALL4)
- Mandibuloacral dysplasia (LMNA)
- Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
- Mandibulofacial dysostosis with alopecia (EDNRA)
- Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
- Miller syndrome, included (DHODH)
- Oculo-auriculo-vertebral spectrum/Goldenhar syndrome [panelapp] (MYT1)
- Otofaciocervical syndrome (EYA1)
- Townes-Brocks branchiootorenal-like syndrome (SALL1)
- Treacher Collins syndrome 1 (TCOF)
- Treacher Collins syndrome 2 (POLR1D)
Heredity, heredity patterns etc.
- AD
- AR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.0
Bioinformatics and clinical interpretation
No text defined