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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: TIMM8A

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

1 review

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: 0.10

History Filter Activity

9 Jul 2019, Gel status: 2

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

2 Apr 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to TIMM8A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TIMM8A was added gene: TIMM8A was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: TIMM8A was set to