Hereditary neuropathy or pain disorder
Gene: OPA1

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

4 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 10:16 a.m. | Last Modified: 1 Feb 2023, 10:16 a.m.

Panel Version: 2.18

Created: 1 Feb 2023, 10:16 a.m.
Last Modified: 1 Feb 2023, 10:16 a.m.
Panel version: 2.18

Arina Puzriakova (Genomics England Curator)

Comment on list classification: It has now been agreed that all genes causing neuropathy as a key feature of a phenotype, even if in the context of other syndromic symptoms, should be included on this panel to minimise the risk of missing cases. For this reason it would now be appropriate to rate this gene as Green on R78.
Created: 13 Apr 2022, 9:22 a.m. | Last Modified: 13 Apr 2022, 9:22 a.m.

Panel Version: 1.97

Comment on mode of inheritance: Updated from 'monoallelic' only to 'both mono- and biallelic'. Biallelic variants cause Behr syndrome (MIM# 210000) which is also associated with axonal sensorimotor peripheral neuropathy (PMID: 20157015; 25012220; 25146916). Sufficient cases have been reported to rate as green for both inheritance patterns.
Created: 13 Apr 2022, 9:14 a.m. | Last Modified: 13 Apr 2022, 9:14 a.m.

Panel Version: 1.96

Created: 13 Apr 2022, 9:14 a.m.
Last Modified: 13 Apr 2022, 9:14 a.m.
Panel version: 1.96

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - mitochondrial / Broader mitochondrial phenotype
Created: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.

Panel Version: 0.86

This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.

Panel Version: 0.84

Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.

Created: 11 Jun 2019, 1:40 p.m.

Panel version: 0.86

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy

Created: 6 Jun 2019, 10:52 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.121

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
London North GLH
NHS GMS
NHS GMS
London North GLH

Phenotypes

Optic atrophy plus syndrome, OMIM:125250
Behr syndrome, OMIM:210000

OMIM

605290

Clinvar variants

Variants in OPA1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag Q2_22_rating was removed from gene: OPA1.

1 Feb 2023, Gel status: 3

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to OPA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Apr 2022, Gel status: 2