Paediatric or syndromic cardiomyopathy
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
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: TTC19; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 2, 615157
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- MetBioNet
- NHS GMS
- Phenotypes
-
- Mitochondrial complex III deficiency, nuclear type 2, 615157
- OMIM
- 613814
- Clinvar variants
- Variants in TTC19
- Penetrance
- None
- 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
2 Dec 2019, Gel status: 1
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to TTC19. Rating Changed from Green List (high evidence) to Red List (low evidence)
9 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TTC19 was added gene: TTC19 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157