Auditory Neuropathy Spectrum Disorde
Gene: OPA1EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
2 reviews
Richard Scott (Genomics England Curator)
Comment on list classification: As per review, could present with non-syndromic ANSDCreated: 10 May 2016, 8:57 p.m.
Maria Bitner-Glindzicz (UCL)
Would be unusual to cause non-syndromic Auditory neuropathy spectrum disorder; normal VEPs are expected before recruitment.Created: 13 Oct 2015, 9:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Optic atrophy 1, OMIM:165500
- Optic atrophy plus syndrome, OMIM:125250
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- Optic neuropathy
- Structural eye disease
- Likely inborn error of metabolism
- Auditory Neuropathy Spectrum Disorde
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Retinal disorders
- Possible mitochondrial disorder - nuclear genes
- Glaucoma (developmental)
- Hereditary neuropathy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: OPA1 were changed from 125250 to Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for OPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Richard Scott (Genomics England Curator)Publications for OPA1 were set to 11017079
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for OPA1 were set to 125250
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)OPA1 was added to Auditory Neuropathy Spectrum Disorder panel. Sources: Eligibility statement prior genetic testing