OPTN

optineurin
OMIM: 602432, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red OPTN in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Glaucoma 1, open angle, E 137760
  • {Glaucoma, normal tension, susceptibility to} 606657

Green OPTN in Neurodegenerative disorders - adult onset


Version 2.57
Latest signed off version: v2.56 (16 Dec 2021)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Glaucoma 1, open angle, E, 137760
  • Amyotrophic Lateral Sclerosis, Recessive

Green OPTN in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.34

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Amyotrophic Lateral Sclerosis, Recessive
  • Glaucoma 1, open angle, E, 137760

Red OPTN in Structural eye disease


Version 1.52
Latest signed off version: v1.3 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Glaucoma 1, open angle, E, 137760
  • {Glaucoma, normal tension, susceptibility to} 606657