Hereditary ataxia

Gene: TTC19

Green List (high evidence)

TTC19 (tetratricopeptide repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000011295
EnsemblGeneIds (GRCh37): ENSG00000011295
OMIM: 613814, Gene2Phenotype
TTC19 is in 14 panels

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: Good evidence
Created: 11 Jul 2016, 8:47 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Good evidence in literature
Created: 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

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