Deutsch
IllnessSenior-Loken syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Senior-Loken syndrome comprising 7 and and core candidate genes as well as altogether 14 curated genes according to the clinical signs
ID
SP0730
Number of genes
10
Accredited laboratory test
Examined sequence length
21,9 kb (Core-/Core-canditate-Genes)
34,4 kb (Extended panel: incl. additional genes)
34,4 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 |
|---|---|---|---|---|
| CEP290 | 7440 | NM_025114.4 | AR | |
| IQCB1 | 1797 | NM_001023570.4 | AR | |
| NPHP1 | 2202 | NM_000272.5 | AR | |
| NPHP3 | 3993 | NM_153240.5 | AR | |
| NPHP4 | 4281 | NM_015102.5 | AR | |
| SDCCAG8 | 2142 | NM_006642.5 | AR | |
| CEP164 | 4383 | NM_014956.5 | AR | |
| IFT81 | 2158 | NM_001143779.2 | AR | |
| TRAF3IP1 | 1878 | NM_001139490.1 | AR | |
| WDR19 | 4029 | NM_025132.4 | AR |
Informations about the disease
Clinical Comment
Oculo-renal ciliopathy with association of nephronophthisis, chronic kidney disease, retinal dystrophy
Synonyms
- Alias: Juvenile nephronophthisis with Leber amaurosis
- Alias: Nephronophthisis with retinal dystrophy
- Alias: Renal dysplasia + retinal aplasia
- Alias: Renal dysplasia-retinal aplasia syndrome
- Allelic: Bardet-Biedl syndrome 14 (CEP290)
- Allelic: Bardet-Biedl syndrome 16 (SDCCAG8)
- Allelic: Cranioectodermal dysplasia 4 (WDR19)
- Allelic: Leber congenital amaurosis 10 (CEP290)
- Allelic: Meckel syndrome 4 (CEP290)
- Allelic: Meckel syndrome 7 (NPHP3)
- Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
- Allelic: Polydactyly, preaxial, type IV (GLI3)
- Allelic: Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
- Allelic: Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
- Cone-rod dystrophy 20 (POC1B)
- Greig cephalopolysyndactyly syndrome (GLI3)
- Joubert syndrome 4 (NPHP1)
- Joubert syndrome 5 (CEP290)
- Joubert syndrome [panelapp] (POC1B)
- Nephronophthisis 1, juvenile (NPHP1)
- Nephronophthisis 13 (WDR19)
- Nephronophthisis 15 (CEP164)
- Nephronophthisis 2, infantile (INVS)
- Nephronophthisis 3 (NPHP3)
- Nephronophthisis 4 (NPHP4)
- Oro-facio-digital syndrome type IX [panelapp] (SCLT1)
- Pallister-Hall syndrome (GLI3)
- Senior-Loken syndrome (CEP164)
- Senior-Loken syndrome 1 (NPHP1)
- Senior-Loken syndrome 4 (NPHP4)
- Senior-Loken syndrome 5 (IQCB1)
- Senior-Loken syndrome 6 (CEP290)
- Senior-Loken syndrome 7 (SDCCAG8)
- Senior-Loken syndrome 8 (WDR19)
- Senior-Loken syndrome 9 (TRAF3IP1)
- Senior-Løken Syndrome [panelapp] (SCLT1)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined