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Childhood onset dystonia, chorea or related movement disorder

Gene: TIMM8A

Green List (high evidence)
TIMM8A (translocase of inner mitochondrial membrane 8A)
EnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 16 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

PMID: 32820032 (2020) - Animal mouse model with a hemizygous variant (p.I23fs49X) in the Timm8a1 gene, recapitulated features of the deafness-dystonia-optic neuronopathy (DDON) syndrome, associated with this gene. Mutant male mice exhibited hearing impairment, cognitive decline, and some age-dependant alteration in motor coordination and balance. Abnormal mitochondrial morphology was detected in several brain regions of mutant mice using electron microscopy.
Created: 2 Sep 2020, 2:19 p.m. | Last Modified: 2 Sep 2020, 2:19 p.m.
Panel Version: 1.49

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Created: 2 Sep 2020, 2:19 p.m.
Last Modified: 2 Sep 2020, 2:19 p.m.
Panel version: 1.49

Louise Daugherty (Genomics England Curator)

Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Described in multiple families
Created: 12 Dec 2019, 3:40 p.m. | Last Modified: 12 Dec 2019, 3:40 p.m.
Panel Version: 0.257
Created: 12 Dec 2019, 3:40 p.m.
Last Modified: 12 Dec 2019, 3:40 p.m.
Panel version: 0.257

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Emily Jones (North Bristol NHS Trust)

I don't know

Deafness-dystonia syndrome. Deafness precedes the dystonia. Dystonia can occur from first to sixth decades, but peak in 2nd and 3rd decades. As dystonia is rarely childhood onset likely more appropriate in adult movement disorders panel
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TIMM8A. Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TIMM8A was added gene: TIMM8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TIMM8A was set to