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Prepair 1000+

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 15 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Early childhood onset, progressive syndrome that includes deafness, visual disability leading to cortical blindness, dystonia, fractures, and intellectual impairment.
Some obligate carrier females may have minor neuropathy and mild hearing impairment (PMID 7643352)
Created: 12 Dec 2024, 1:15 a.m. | Last Modified: 12 Dec 2024, 1:15 a.m.
Panel Version: 1.633

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

Phenotypes
Mohr-Tranebjaerg syndrome MIM#304700

Publications

Created: 12 Dec 2024, 1:15 a.m.
Last Modified: 12 Dec 2024, 1:15 a.m.
Panel version: 1.633

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TIMM8A were changed from Jensen syndrome, 311150 (3) to Mohr-Tranebjaerg syndrome MIM#304700

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TIMM8A were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TIMM8A was added gene: TIMM8A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to Jensen syndrome, 311150 (3)