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Hearing loss

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

3 reviews

Jun Shen (Harvard Medical School)

Green List (high evidence)

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

Phenotypes
#304700:Mohr-Tranebjaerg syndrome[Sensorineural deafness, postlingual, progressive; PhotophobiaCortical blindnessMyopiaDecreased visual acuityConstricted visual fieldsAbnormal electroretinogram; Fractures; DystoniaSpasticityAbnormal posturingDysphagiaDysarthriaTremorHyperreflexiaMental deterioration; Behavioral/psychiatric abnormalities]; #311150:Jensen syndrome[Optic atrophy; Blindness; Infantile sensorineural hearing loss; Dementia; Moderate diffuse skeletal muscle wasting; Extensive CNS calcification in all structures, including meninges, vessels, and neurons at autopsy]; #:Deafness, X-linked 1, progressive

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 8 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Good evidence for causing Mohr-Tranebjaerg syndrome and the diagnosis could be missed so put on green list. Neurodegenerative
Created: 19 Oct 2015, 6:14 p.m.

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

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

22 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TIMM8A were set to #304700:Mohr-Tranebjaerg syndrome; hearing loss; Deafness, X-linked 1, progressive;

22 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TIMM8A were set to PMID: 10051608; 10878669; 11405816; 11601506; 11875042; 11956200; 15037720; 15254020; 15710860; 16411215; 8380905; 8841189

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for TIMM8A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TIMM8A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TIMM8A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TIMM8A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert