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Gene: TTC19

Green List (high evidence)
TTC19 (tetratricopeptide repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000011295
EnsemblGeneIds (GRCh37): ENSG00000011295
OMIM: 613814, Gene2Phenotype
TTC19 is in 9 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

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. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life. The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances.

Intrafamilial variability has been reported (PMID: 25887401).
Created: 21 Jan 2025, 2:02 a.m. | Last Modified: 21 Jan 2025, 2:02 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 2 MIM#615157

Publications

Created: 21 Jan 2025, 2:02 a.m.
Last Modified: 21 Jan 2025, 2:02 a.m.
Panel version: 1.1257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2 MIM#615157
OMIM
613814
Clinvar variants
Variants in TTC19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttc19 has been classified as Green List (High Evidence).

24 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TTC19 were changed from Mitochondrial complex III deficiency, nuclear type 2, 615157 (3) to Mitochondrial complex III deficiency, nuclear type 2 MIM#615157

24 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TTC19 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TTC19 was added gene: TTC19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)