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IllnessCosteff syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Costeff syndrome comprising 13 curated genes according to the clinical signs
ID
CP1991
Number of genes
13
Accredited laboratory test
Examined sequence length
0,6 kb (Core-/Core-canditate-Genes)
17,4 kb (Extended panel: incl. additional genes)
17,4 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 |
|---|---|---|---|---|
| OPA3 | 540 | NM_025136.4 | AR | |
| AGK | 1269 | NM_018238.4 | AR | |
| AUH | 1020 | NM_001698.3 | AR | |
| CLPB | 2034 | NM_001258392.3 | AR | |
| DNAJC19 | 351 | NM_145261.4 | AR | |
| HTRA2 | 1377 | NM_013247.5 | AR | |
| POLG | 3720 | NM_002693.3 | AR | |
| SERAC1 | 1965 | NM_032861.4 | AR | |
| SUCLA2 | 1392 | NM_003850.3 | AR | |
| SUCLG1 | 1041 | NM_003849.4 | AR | |
| TAFAZZIN | 879 | NM_000116.5 | XLR | |
| TIMM50 | 1455 | NM_001001563.5 | AR | |
| TMEM70 | 324 | NM_001040613.3 | AR |
Informations about the disease
Clinical Comment
Optic atrophy and/or choreoathetoid movement disorder with onset before age of 10 years
Synonyms
- Alias: 3-methylglutaconic aciduria, type III (OPA3)
- Alias: Iraqi-Jewish 'Optic atrophy plus' (OPA3)
- Alias: Optic atrophy 3 with cataract (OPA3)
- Alias: Optic atrophy 3, AR (OPA3)
- Alias: Optic atrophy plus syndrome (OPA3)
- Alias: Optic atrophy, infantile, with chorea + spastic paraplegia (OPA3)
- 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome SERAC1)
- 3-methylglutaconic aciduria, type I (AUH)
- 3-methylglutaconic aciduria, type IX (TIMM50)
- 3-methylglutaconic aciduria, type V (DNAJC19)
- 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
- 3-methylglutaconic aciduria, type VIII (HTRA2)
- Allelic: Parkinson disease 13 (HTRA)
- Barth syndrome (TAFAZZZIN, TAZ)
- Cataract 38, AR (AGK)
- Mito. DNA depletion syndrome 5 [encephalomyopathic with/-out methylmalonic aciduria] (SUCLA2)
- Mito. DNA depletion syndrome 9 [encephalomyopathic type with methylmalonic aciduria] (SUCLG1)
- Mitochondrial DNA depletion syndrome 4A [Alpers type] + 4B [MNGIE type] (POLG)
- Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
- Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
- Progressive external ophthalmoplegia, AD 1 (POLG)
- Progressive external ophthalmoplegia, AR 1 (POLG)
- Sengers syndrome (AGK)
Heredity, heredity patterns etc.
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
H47.0
Bioinformatics and clinical interpretation
No text defined