IllnessRetinitis pigmentosa, without further information [initial panel]
Summary
Comprehensive differential diagnostic panel for Retinitis pigmentosa, without further information, containing 1 guideline-curated core gene, furthermore 7 guideline-mentioned core candidate genes and altogether 19 curated genes according to the clinical signs
54,0 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
ABCA4 | 6822 | NM_000350.3 | AR | |
EYS | 9435 | NM_001142800.2 | AR | |
PRPF31 | 1500 | NM_015629.4 | AD | |
PRPH2 | 1041 | NM_000322.5 | AD, AR, digenisch | |
RHO | 1047 | NM_000539.3 | AD, AR | |
RPE65 | 1602 | NM_000329.3 | AR | |
RPGR | 2448 | NM_000328.3 | XL | |
USH2A | 15609 | NM_206933.4 | AR | |
BEST1 | 1758 | NM_004183.4 | AD, AR | |
PDE6A | 2583 | NM_000440.3 | AR | |
PDE6B | 2565 | NM_000283.4 | AD, AR | |
RP1 | 6471 | NM_006269.2 | AD, AR | |
RP2 | 1053 | NM_006915.3 | XLR |
Informations about the disease
Retinitis Pigmentosa (RP) is the most common form of hereditary retinal dystrophy characterised by photoreceptor degeneration. RP manifests with initial night blindness and tunnel vision, followed by secondary loss of cone photoreceptors, leading to reduced visual acuity and macular degeneration. The onset and progression of RP and the severity of symptoms can vary significantly between patients, even within the same family. More than 200 different forms of RP are known. In 60 to >80% of RP patients a genetic predisposition can be identified (depending on the population and clinical preselection), which can be inherited according to all classical inheritance or in a few cases digenically. There is sometimes incomplete penetrance and differential clinical expression. An inconspicuous genetic finding does not mean that the suspected clinical diagnosis can be excluded with certainty.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK1417/
- Sympt.: übergreifende Bezeichnung - retinale Dystrophien
- Alias: Chorioretinitis
- Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
- Allelic: Leber congenital amaurosis 18 (PRPH2)
- Allelic: Macular dystrophy, patterned, 1 (PRPH2)
- Allelic: Macular dystrophy, retinal, 2 (PROM1)
- Allelic: Macular dystrophy, vitelliform, 3 (PRPH2)
- Allelic: Night blindness, congenital stationary, AD 2 (PDE6B)
- Allelic: Occult macular dystrophy (RP1L1)
- Allelic: Stargardt disease 4 (PROM1)
- Allelic: Usher syndrome, type 2A (USH2A)
- Achromatopsia 2 (CNGA3)
- Cone dystrophy 4 (PDE6C)
- Cone dystrophy-3 (GUCA1A)
- Cone-rod dystrophy 12 (PROM1)
- Cone-rod dystrophy 14 (GUCA1A)
- Retinitis pigmentosa 1 (RP1)
- Retinitis pigmentosa 11 (PRPF31)
- Retinitis pigmentosa 19 (ABCA4)
- Retinitis pigmentosa 2 (RP2)
- Retinitis pigmentosa 20 (RPE65)
- Retinitis pigmentosa 25 (EYS)
- Retinitis pigmentosa 26 (CERKL)
- Retinitis pigmentosa 3 (RPGR)
- Retinitis pigmentosa 39 (USH2A)
- Retinitis pigmentosa 4, AD/AR (RHO)
- Retinitis pigmentosa 40 (PDE6B)
- Retinitis pigmentosa 41 (PROM1)
- Retinitis pigmentosa 43 (PDE6A)
- Retinitis pigmentosa 50 (BEST1)
- Retinitis pigmentosa 7 + digenic form (PRPH2)
- Retinitis pigmentosa 87 with choroidal involvement (RPE65)
- Retinitis pigmentosa 88 (RP1L1)
- Retinitis pigmentosa, XL, sinorespiratory infections +/- deafness (RPGR)
- Retinitis pigmentosa, concentric (BEST1)
- Retinitis punctata albescens (PRPH2)
- AD
- AR
- XL
- XLR
- digenisch
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined