IllnessGlaukom, adultes Weitwinkel-; Suszeptibilität
Summary
Comprehensive differential diagnostic panel for glaucoma/POAG susceptibility comprising 3 Mendelian-trait genes and altogether 14 curated genes according to the clinical signs concerning the multifactorial trait
20,6 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS + SNP
[Sanger]
Gene panel
Informations about the disease
Glaucoma occurs at all ages, early onset disease before 40 y with Mendelian inheritance; adult onset after age 40 inherited as complex traits; generally, mutations in genes causing early onset glaucoma are rare with large biological effects, while variants contributing to the adult-onset glaucomas are common with smaller effects.
Mutations in each of three genes, MYOC, OPTN and TBK1 may cause primary open-angle glaucoma as Mendelian trait. MYOC mutations cause 3–4% of POAG cases [>21 mmHg], while OPTN, TBK1 and MYOC mutations each cause ∼1% of POAG with IOP ≤21 mmHg [normal tension glaucoma].
- Allelic: Charcot-Marie-Tooth disease, axonal, types 2A2A + 2A2B (MFN2)
- Allelic: Encephalopathy, acute, herpes infection-induced, susceptibility to, 8 (TBK1)
- Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
- Allelic: Hereditary motor + sensory neuropathy VIA (MFN2)
- Charcot-Marie-Tooth disease, type 4B2 (SBF2)
- Eye Disorders [panelapp] (MFN2)
- Glaucoma 1, open angle, 1O (NTF4)
- Glaucoma 1, open angle, E (OPTN)
- Glaucoma 1, open angle, F (ASB10)
- Glaucoma 1, open angle, G (WDR36)
- Glaucoma 1, open angle, P [MONDO] (TBK1)
- Glaucoma 1A, primary open angle (MYOC)
- Glaucoma 3, primary congenital, D (LTBP2)
- Glaucoma 3, primary congenital, E (TEK)
- Glaucoma, normal tension, susceptibility to (OPA1)
- Microspherophakia and/or megalocornea, with ectopia lentis with/-out secondary glaucoma (LTBP2)
- AD
- AR
- XL
- n.k.
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined