Adult onset neurodegenerative disorder
Gene: MT-ATP6
mitochondrial disorder with early onset - redCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Neuropathy, Ataxia, and Retinitis Pigmentosa
Onset in early childhoodCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Neuropathy, Ataxia, and Retinitis Pigmentosa
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Source Expert Review Red was added to MT-ATP6. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to MT-ATP6.
Source Yorkshire and North East GLH was added to MT-ATP6.
Source NHS GMS was added to MT-ATP6.
Source London North GLH was added to MT-ATP6.
Louise Daugherty: Comment on phenotypes: amended
gene: MT-ATP6 was added gene: MT-ATP6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa