Structural eye disease
Gene: OPA1EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
optic atrophy but no other evidence of structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome; Optic atrophy 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; ; 125250; 165500; 210000;
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). optic atrophy but no other evidence of structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; Behr syndrome; Glaucoma, normal tension, susceptibility to, 210000
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- {Glaucoma, normal tension, susceptibility to}, OMIM:606657
- Optic atrophy 1, OMIM:165500
- Optic atrophy plus syndrome, OMIM:125250
- Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896
- Behr syndrome, OMIM:210000
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Optic neuropathy
- Structural eye disease
- Intellectual disability
- Auditory Neuropathy Spectrum Disorde
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Monogenic hearing loss
- Possible mitochondrial disorder - nuclear genes
- Glaucoma (developmental)
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Glaucoma, normal tension, susceptibility to, 210000; Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to} 606657; Behr syndrome to {Glaucoma, normal tension, susceptibility to}, OMIM:606657; Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896; Behr syndrome, OMIM:210000
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to OPA1. Mode of inheritance for gene OPA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Optic atrophy 1, 165500; Glaucoma, normal tension, susceptibility to, 210000; Optic atrophy plus syndrome, 125250; Behr syndrome for gene: OPA1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: OPA1 was added gene: OPA1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OPA1 was set to Phenotypes for gene: OPA1 were set to {Glaucoma, normal tension, susceptibility to} 606657