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IllnessMeckel[-Gruber] syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Meckel[-Gruber] syndrome comprising 9 or altogether 21 curated genes according to the clinical signs
ID
MP5160
Number of genes
20
Accredited laboratory test
Examined sequence length
25,2 kb (Core-/Core-canditate-Genes)
47,6 kb (Extended panel: incl. additional genes)
47,6 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 | Heredity |
|---|---|---|---|
| B9D1 | 615 | AR | |
| CC2D2A | 4863 | AR | |
| CEP290 | 7440 | AR | |
| MKS1 | 1680 | AR | |
| RPGRIP1L | 3948 | AR | |
| TCTN2 | 2094 | AR | |
| TMEM216 | 438 | AR | |
| TMEM231 | 1110 | AR | |
| TMEM67 | 2988 | AR | |
| B9D2 | 528 | AR | |
| CEP120 | 2961 | AR | |
| CEP41 | 1122 | AR | |
| CSPP1 | 3666 | AR | |
| KIF14 | 4947 | AR | |
| NPHP3 | 3993 | AR | |
| TCTN3 | 1824 | AR | |
| TMEM107 | 514 | AD | |
| TMEM138 | 489 | AR | |
| TMEM237 | 1227 | AR | |
| TXNDC15 | 1088 | AR |
Informations about the disease
Clinical Comment
Lethal, multiple congenital anomaly disorder with a triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys + polydactyly, associated abnormalities like cleft lip/palate, cardiac + genital anomalies, central nervous system malformations, liver fibrosis, bone dysplasia
Synonyms
- Alias: Dysencephalia splanchnocystica
- Allelic: Bardet-Biedl syndrome 13 (MKS1)
- Allelic: Bardet-Biedl syndrome 14 (CEP290)
- Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
- Allelic: COACH syndrome (CC2D2A, RPGRIP1L, TMEM67)
- Allelic: Leber congenital amaurosis 10 (CEP290)
- Allelic: Microcephaly 20, primary, AR (KIF14)
- Allelic: Nephronophthisis 11 (TMEM67)
- Allelic: Nephronophthisis 3 (NPHP3)
- Allelic: RHYNS syndrome (TMEM67)
- Allelic: Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
- Allelic: Senior-Loken syndrome 6 (CEP290)
- Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
- Joubert syndrome 14 (TMEM237)
- Joubert syndrome 15 (CEP41)
- Joubert syndrome 16 (TMEM138)
- Joubert syndrome 17 (CPLANE1)
- Joubert syndrome 18 (TCTN3)
- Joubert syndrome 2 (TMEM216)
- Joubert syndrome 20 (TMEM231)
- Joubert syndrome 21 (CSPP1)
- Joubert syndrome 24 (TCTN2)
- Joubert syndrome 28 (MKS1)
- Joubert syndrome 29 (TMEM107)
- Joubert syndrome 31 (CEP120)
- Joubert syndrome 34 (B9D2)
- Joubert syndrome 5 (CEP290)
- Joubert syndrome 6 (TMEM67)
- Joubert syndrome 7 (RPGRIP1L)
- Joubert syndrome 9 (CC2D2A)
- Meckel syndrome 1 (MKS1)
- Meckel syndrome 10 (B9D2)
- Meckel syndrome 11 (TMEM231)
- Meckel syndrome 12 (KIF14)
- Meckel syndrome 13 (TMEM107)
- Meckel syndrome 2 (TMEM216)
- Meckel syndrome 3 (TMEM67)
- Meckel syndrome 4 (CEP290)
- Meckel syndrome 5 (RPGRIP1L)
- Meckel syndrome 6 (CC2D2A)
- Meckel syndrome 7 (NPHP3)
- Meckel syndrome 8 (TCTN2)
- Meckel syndrome 9 (B9D1)
- Meckel[-Gruber] syndrome [panelapp] (TXNDC15)
- Orofaciodigital syndrome IV (TCTN3)
- Orofaciodigital syndrome VI (CPLANE1)
- Orofaciodigital syndrome XVI (TMEM107)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q89.8
Bioinformatics and clinical interpretation
No text defined