Ataxia and cerebellar anomalies - narrow panel
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
0 reviews
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
- None
- Panels with this gene
-
- Mitochondrial disorders
- DDG2P
- Adult onset neurodegenerative disorder
- Mitochondrial disorder with complex III deficiency
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
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
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TTC19 was added gene: TTC19 was added to Ataxia and cerebellar anomalies - narrow panel. 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)