Deutsch
IllnessHydrolethalus syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Hydrolethalus syndrome comprising 2 or altogether 11 curated genes according to the clinical signs
ID
HP5230
Number of genes
10
Accredited laboratory test
Examined sequence length
10,0 kb (Core-/Core-canditate-Genes)
40,6 kb (Extended panel: incl. additional genes)
40,6 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 |
|---|---|---|---|---|
| HYLS1 | 900 | NM_145014.3 | AR | |
| KIAA0586 | 5005 | NM_001244189.2 | AR | |
| KIF7 | 4032 | NM_198525.3 | AR | |
| CC2D2A | 4863 | NM_001080522.2 | AR | |
| CEP290 | 7440 | NM_025114.4 | AR | |
| CPLANE1 | 9864 | NM_023073.4 | AR | |
| DHCR7 | 1428 | NM_001360.3 | AR | |
| GLI3 | 4743 | NM_000168.6 | AD | |
| TCTN3 | 1824 | NM_015631.6 | AR | |
| TMEM216 | 438 | NM_001173990.3 | AR |
Informations about the disease
Clinical Comment
Severe fetal malformation syndrome: craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract, limb abnormalities
Synonyms
- Sy: Polydactyly + central nervous system malformation
- Allelic: Acrocallosal syndrome (KIF7)
- Allelic: Al-Gazali-Bakalinova syndrome (KIF7)
- Allelic: Bardet-Biedl syndrome 13 (MKS1)
- Allelic: Bardet-Biedl syndrome 14 (CEP290)
- Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
- Allelic: COACH syndrome (RPGRIP1L)
- Allelic: COACH syndrome 1 (TMEM67)
- Allelic: COACH syndrome 2 (CC2D2A)
- Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
- Allelic: Joubert syndrome 12 (KIF7)
- Allelic: Joubert syndrome 14 (TMEM237)
- Allelic: Joubert syndrome 15 (CEP41)
- Allelic: Joubert syndrome 16 (TMEM138)
- Allelic: Joubert syndrome 17 (C5orf42 syn. CPLANE1)
- Allelic: Joubert syndrome 18 (TCTN3)
- Allelic: Joubert syndrome 2 (TMEM216)
- Allelic: Joubert syndrome 20 (TMEM231)
- Allelic: Joubert syndrome 21 (CSPP1)
- Allelic: Joubert syndrome 23 (KIAA0586)
- Allelic: Joubert syndrome 24 (TCTN2)
- Allelic: Joubert syndrome 27 (B9D1)
- Allelic: Joubert syndrome 28 (MKS1)
- Allelic: Joubert syndrome 29 (TMEM107)
- Allelic: Joubert syndrome 3 (AHI1)
- Allelic: Joubert syndrome 31 (CEP120)
- Allelic: Joubert syndrome 34 (B9D2)
- Allelic: Joubert syndrome 5 (CEP290)
- Allelic: Joubert syndrome 6 (TMEM67)
- Allelic: Joubert syndrome 7 (RPGRIP1L)
- Allelic: Joubert syndrome 9 (CC2D2A)
- Allelic: Leber congenital amaurosis 10 (CEP290)
- Allelic: Nephronophthisis 11 (TMEM67)
- Allelic: Orofaciodigital syndrome IV (TCTN3)
- Allelic: Orofaciodigital syndrome VI (C5orf42 syn. CPLANE1)
- Allelic: Orofaciodigital syndrome XVI (TMEM107)
- Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
- Allelic: Polydactyly, preaxial, type IV (GLI3)
- Allelic: RHYNS syndrome (TMEM67)
- Allelic: Senior-Loken syndrome 6 (CEP290)
- Allelic: Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
- Allelic: Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
- Hydrolethalus syndrome 2 (KIF7)
- Hydrolethalus syndrome, lethal (HYLS1)
- Meckel syndrome 1 (MKS1)
- Meckel syndrome 10 (B9D2)
- Meckel syndrome 11 (TMEM231)
- 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 8 (TCTN2)
- Meckel syndrome 9 (B9D1)
- Pallister-Hall syndrome (GLI3)
- Smith-Lemli-Opitz syndrome (DHCR7)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined