OPTN

optineurin
OMIM: 602432, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red OPTN in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Glaucoma 1, open angle, E, OMIM:137760 {Glaucoma, normal tension, susceptibility to}, OMIM:606657 Adult-onset
Green OPTN in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, OMIM:613435
Green OPTN in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.74	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 12 with or without frontotemporal dementia, OMIM:613435
Red OPTN in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Phenotypes Glaucoma 1, open angle, E, OMIM:137760 {Glaucoma, normal tension, susceptibility to}, OMIM:606657 Adult-onset