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Hereditary Neuropathy - complex

Gene: OPA1

Green List (high evidence)
OPA1 (OPA1, mitochondrial dynamin like GTPase)
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene-disease association.
Reported in multiple individuals with neuropathy as a clinical feature.
Created: 7 Aug 2023, 4:41 a.m. | Last Modified: 7 Aug 2023, 4:41 a.m.
Panel Version: 0.215

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Optic atrophy plus syndrome (MIM#125250)

Publications

Created: 7 Aug 2023, 4:41 a.m.
Last Modified: 7 Aug 2023, 4:41 a.m.
Panel version: 0.215

History Filter Activity

8 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: opa1 has been classified as Green List (High Evidence).

8 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OPA1 were changed from Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN to Optic atrophy plus syndrome (MIM#125250)

8 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OPA1 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: OPA1 was added gene: OPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN