Hereditary ataxia with onset in adulthood
Gene: TTC19
On Sheffield panel. Mitochondrial panel (complex 3 deficiency / leigh syndrome)Created: 27 Apr 2019, 7:39 p.m.
Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test groupCreated: 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.
Multiple cases and variants reported in literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency nuclear type II, 615157
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Red was added to TTC19. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source London North GMS was added to TTC19.
Added phenotypes Mitochondrial complex III deficiency nuclear type II, 615157 for gene: TTC19
Source NHS GMS was added to TTC19.
Source Wessex and West Midlands GLH was added to TTC19.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency, 615157 to Mitochondrial complex III deficiency, nuclear type 2, 615157
Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Nuclear type mitochondrial complex III deficiency, 615157
gene: TTC19 was added gene: TTC19 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to Nuclear type mitochondrial complex III deficiency (#615157)