Hereditary ataxia with onset in adulthood
Gene: OPA3
May be better on mitochondrial panel. Optic atrophy looks to be an earlier clinical indicator than the atrophy.Created: 27 Apr 2019, 7:39 p.m.
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green. Confirmed MOI should be AR (Biallelic)Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:47 p.m.
Panel Version: 1.189
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
As AD loss of function variants do not seem to cause disease. Ataxia part of 3-mthylglutaconic aciduria phenotype - multiple patients reported in lit.Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
3-methylglutaconic aciduria type III, 258501, Optic atrophy 3 with cataract, 165300
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to OPA3.
Added phenotypes Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria type III, 258501 for gene: OPA3
Source NHS GMS was added to OPA3.
Source Wessex and West Midlands GLH was added to OPA3.
Checked panel against panel constituents. Ready to promote to version 1.
gene: OPA3 was added gene: OPA3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044 Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome