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IllnessMeckel[-Gruber] syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Meckel[-Gruber] syndrome comprising 10 core candidate genes and altogether 22 curated genes according to the clinical signs
ID
MP5160
Number of genes
20
Accredited laboratory test
Examined sequence length
25,8 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 | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| B9D1 | 615 | NM_015681.5 | AR | |
| B9D2 | 528 | NM_030578.4 | AR | |
| CC2D2A | 4863 | NM_001080522.2 | AR | |
| CEP290 | 7440 | NM_025114.4 | AR | |
| MKS1 | 1680 | NM_017777.4 | AR | |
| RPGRIP1L | 3948 | NM_015272.5 | AR | |
| TCTN2 | 2094 | NM_024809.5 | AR | |
| TMEM216 | 438 | NM_001173990.3 | AR | |
| TMEM231 | 1110 | NM_001077416.2 | AR | |
| TMEM67 | 2988 | NM_153704.6 | AR | |
| CEP120 | 2961 | NM_153223.4 | AR | |
| CEP41 | 1122 | NM_018718.3 | AR | |
| CSPP1 | 3666 | NM_024790.6 | AR | |
| KIF14 | 4947 | NM_014875.3 | AR | |
| NPHP3 | 3993 | NM_153240.5 | AR | |
| TCTN3 | 1824 | NM_015631.6 | AR | |
| TMEM107 | 514 | NM_032354.5 | AR | |
| TMEM138 | 489 | NM_016464.5 | AR | |
| TMEM237 | 1227 | NM_001044385.3 | AR | |
| TXNDC15 | 1088 | NM_024715.4 | 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: Bardet-Biedl syndrome 15 (WDPCP)
- Allelic: COACH syndrome (CC2D2A, RPGRIP1L, TMEM67)
- Allelic: Congenital heart defects, hamartomas of tongue + polysyndactyly (WDPCP)
- 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)
- Meckel[-Gruber] syndrome [panelapp] (WDPCP)
- Orofaciodigital syndrome IV (TCTN3)
- Orofaciodigital syndrome VI (CPLANE1)
- Orofaciodigital syndrome XVI (TMEM107)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined