Adult onset neurodegenerative disorder
Gene: TTC19
Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life - not sure if this presents as a developmental disorder in all cases first?Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 2, 615157
Variable age at onset (range late infancy to adulthood)Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 2, 615157
Publications
Variants in this GENE are reported as part of current diagnostic practice
As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 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.
Phenotypes for gene: TTC19 were changed from Mitochondrial complex III deficiency, nuclear type 2, 615157 to Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157
Source Wessex and West Midlands GLH was added to TTC19.
Publications for gene TTC19 were changed from to 23532514; 21278747
Source Yorkshire and North East GLH was added to TTC19.
Source NHS GMS was added to TTC19.
Source London North GLH was added to TTC19.
Louise Daugherty: Comment on phenotypes: amended
Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157
gene: TTC19 was added gene: TTC19 was added to Neurodegenerative disorders - adult onset. Sources: 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)