Deutsch
IllnessMitochondrial diseases, complex III deficiency; differential diagnosis
Summary
Short information
A curated panel containing 15 genes for the comprehensive analysis of the suspected diagnosis Mitochondrial diseases; complex III deficiency
ID
MP3357
Number of loci
| Loci type | Count |
|---|---|
| Gen | 12 |
Examined sequence length
4,0 kb (Core-/Core-canditate-Genes)
8,5 kb (Extended panel: incl. additional genes)
8,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
- Gewebeprobe
Diagnostic indications
NGS +
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| BCS1L | 1260 | NM_004328.5 | AR | |
| CYC1 | 978 | NM_001916.5 | AR | |
| LYRM7 | 315 | NM_181705.4 | AR | |
| TTC19 | 822 | NM_001271420.2 | AR | |
| UQCC2 | 385 | NM_032340.4 | AR | |
| UQCRB | 240 | NM_001199975.3 | AR | |
| UQCC3 | 284 | NM_001085372.3 | AR | |
| UQCRC1 | 1443 | NM_003365.3 | n.k. | |
| UQCRC2 | 1362 | NM_003366.4 | AR | |
| UQCRFS1 | 825 | NM_006003.3 | AR | |
| UQCRH | 276 | NM_006004.4 | AR | |
| UQCRQ | 249 | NM_014402.5 | AR |
Informations about the disease
Clinical Comment
illness_ClinicalComment_MP3357
Synonyms
- Alias: Isolated CoQ-cytochrome c reductase deficiency
- Alias: Ubiquinone-cytochrome c oxidoreductase deficiency
- Bjornstad syndrome (BCS1L)
- GRACILE syndrome (BCS1L)
- Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
- Mitochondrial complex III deficiency, nuclear type 10 (UQRFS1)
- Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
- Mitochondrial complex III deficiency, nuclear type 3 (UQCRB)
- Mitochondrial complex III deficiency, nuclear type 4 (UQCRQ)
- Mitochondrial complex III deficiency, nuclear type 5 (UQCRC2)
- Mitochondrial complex III deficiency, nuclear type 6 (CYC1)
- Mitochondrial complex III deficiency, nuclear type 7 (UQCC2)
- Mitochondrial complex III deficiency, nuclear type 8 (LYRM7)
- Mitochondrial complex III deficiency, nuclear type 9 (UQCC3)
- [No phenotypes: UQCC1, UQCC3, UQCR10, UQCR11]
Heredity, heredity patterns etc.
- AR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined