Genes in panel

Adult onset 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 17 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

Green List (high evidence)

Deafness-dystonia syndrome. Deafness precedes the dystonia. Dystonia can occur from first to sixth decades, but peak in 2nd and 3rd decades.
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Mohr-Tranebjaerg syndrome, 304700

Publications

History Filter Activity

29 Sep 2019, Gel status: 3

Set mode of inheritance

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

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: timm8a has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A Publications for gene TIMM8A were changed from to 22736418

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TIMM8A.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to TIMM8A.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TIMM8A was added gene: TIMM8A was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: TIMM8A was set to Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome