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  3. TIMM50
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Optic Atrophy

Gene: TIMM50

Amber List (moderate evidence)
TIMM50 (translocase of inner mitochondrial membrane 50)
EnsemblGeneIds (GRCh38): ENSG00000105197
EnsemblGeneIds (GRCh37): ENSG00000105197
OMIM: 607381, Gene2Phenotype
TIMM50 is in 5 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Optic atrophy is a feature of the associated mitochondrial condition, however, not all patients present with it.

Tort 2019: 1 individual reported. Functional studies performed
Shahrour 2017 (PMID: 27573165): 4 individuals from 2 unrelated individuals. Optic atrophy reported in one family. This paper mentions that 3 additional sibs were reported in an abstract.
Created: 9 Apr 2020, 3:29 a.m. | Last Modified: 9 Apr 2020, 3:29 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type IX (MIM#617698)

Publications

Created: 9 Apr 2020, 3:29 a.m.
Last Modified: 9 Apr 2020, 3:29 a.m.
Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type IX (MIM#617698)
OMIM
607381
Clinvar variants
Variants in TIMM50
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TIMM50 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

9 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: timm50 has been classified as Amber List (Moderate Evidence).

9 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TIMM50 were changed from 3-methylglutaconic aciduria, type IX (MIM#617698) to 3-methylglutaconic aciduria, type IX (MIM#617698)

9 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX (MIM#617698)

9 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TIMM50 were set to

9 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: timm50 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TIMM50 was added gene: TIMM50 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TIMM50 was set to Unknown