Optic Atrophy
Gene: TIMM8AEnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 15 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
TIMM8A causes Mohr–Tranebjaerg syndrome (also called deafness-dystonia-optic neuronopathy [DDON] syndrome.
Optic atrophy does not appear to be a major or consistent feature
PMID: 31903733; Neighbors 2020: Patient reported did not show optic neuropathy or retinal involvement
PMID: 30634948; Wang 2019: Reported 3 unrelated families, no signs of optic atrophy
PMID: 22736418; Ha 2012: Only 1 of 3 family showed optic atrophyCreated: 15 Apr 2020, 2:10 a.m. | Last Modified: 15 Apr 2020, 2:10 a.m.
Panel Version: 0.60
TIMM8A causes Mohr–Tranebjaerg syndrome (also called deafness-dystonia-optic neuronopathy [DDON] syndrome.
Optic atrophy does not appear to be a major or consistent feature
PMID: 31903733; Neighbors 2020: Patient reported did not show optic neuropathy or retinal involvement
PMID: 30634948; Wang 2019: Reported 3 unrelated families, no signs of optic atrophy
PMID: 22736418; Ha 2012: Only 1 of 3 family showed optic atrophyCreated: 15 Apr 2020, 2:10 a.m. | Last Modified: 15 Apr 2020, 2:10 a.m.
Panel Version: 0.60
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mohr-Tranebjaerg syndrome (MIM#304700)
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mohr-Tranebjaerg syndrome (MIM#304700)
- OMIM
- 300356
- Clinvar variants
- Variants in TIMM8A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Optic Atrophy
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Auditory Neuropathy
- Regression
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Syndromic Retinopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: timm8a has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome (MIM#304700)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TIMM8A were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: timm8a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TIMM8A was added gene: TIMM8A was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TIMM8A was set to Unknown