©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGlaukom, adultes Weitwinkel-; Suszeptibilität

Summary

Short information

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

ID
GP4763
Number of genes
10 Accredited laboratory test
Examined sequence length
5,5 kb (Core-/Core-canditate-Genes)
20,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + SNP

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
MYOC1515AD
OPTN1734XL
TBK12190n.k.
ASB101404AD
ATOH7459AR
COL18A14560AR
MFN22274n.k.
NTF4633AD
OPA12883AD, AR
WDR362856AR

Informations about the disease

Clinical Comment

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].

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H40.8

Bioinformatics and clinical interpretation

No text defined