Hereditary ataxia
Gene: TTC19
TTC19 (tetratricopeptide repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000011295
EnsemblGeneIds (GRCh37): ENSG00000011295
OMIM: 613814, Gene2Phenotype
TTC19 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000011295
EnsemblGeneIds (GRCh37): ENSG00000011295
OMIM: 613814, Gene2Phenotype
TTC19 is in 15 panels
2 reviews
emma baple (Genomics England Curator)
Comment when marking as ready: Good evidenceCreated: 11 Jul 2016, 8:47 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Good evidence in literatureCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nuclear type mitochondrial complex III deficiency (#615157)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex III deficiency, nuclear type 2, 615157
- OMIM
- 613814
- Clinvar variants
- Variants in TTC19
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Mitochondrial disorder with complex III deficiency
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
9 Jan 2019, Gel status: 3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Nov 2015, Gel status: 0
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)TTC19 was created by jonathan.williams
24 Nov 2015, Gel status: 0
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)TTC19 was added to Hereditary ataxiapanel. Sources: Expert Review