1. Panels
  2. Ataxia - paediatric
  3. TTC19
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Ataxia - paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ataxia is part of the phenotype.
Sources: Expert list
Created: 27 Dec 2019, 3:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 27 Dec 2019, 3:42 a.m.

Panel version: Imported from Ataxia_VCGS panel version 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial complex III deficiency nuclear type II, 615157
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
OMIM
613814
Clinvar variants
Variants in TTC19
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2020, 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).

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TTC19 was added gene: TTC19 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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 II, 615157; Mitochondrial complex III deficiency, nuclear type 2, 615157