Monogenic hearing loss
Gene: TIMM8APMID: 32820032 (2020) - Animal mouse model with a hemizygous variant (p.I23fs49X) in the Timm8a1 gene, recapitulated features of deafness-dystonia-optic neuronopathy (DDON) syndrome. 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, 2:06 p.m. | Last Modified: 2 Sep 2020, 2:06 p.m.
Panel Version: 2.45
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
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
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 8 p.m.
Good evidence for causing Mohr-Tranebjaerg syndrome and the diagnosis could be missed so put on green list. NeurodegenerativeCreated: 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
Phenotypes for TIMM8A were set to #304700:Mohr-Tranebjaerg syndrome; hearing loss; Deafness, X-linked 1, progressive;
Publications for TIMM8A were set to PMID: 10051608; 10878669; 11405816; 11601506; 11875042; 11956200; 15037720; 15254020; 15710860; 16411215; 8380905; 8841189
Mode of inheritance for TIMM8A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TIMM8A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
TIMM8A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
TIMM8A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert