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  3. TMEM65
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Mitochondrial disease

Gene: TMEM65

Amber List (moderate evidence)
TMEM65 (transmembrane protein 65)
EnsemblGeneIds (GRCh38): ENSG00000164983
EnsemblGeneIds (GRCh37): ENSG00000164983
OMIM: 616609, Gene2Phenotype
TMEM65 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance.
Sources: NHS GMS
Created: 20 Mar 2020, 4:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial encephalomyopathy

Publications

Created: 20 Mar 2020, 4:36 a.m.

Panel version: Imported from Mendeliome panel version 0.1775

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries.
Sources: NHS GMS
Created: 19 Mar 2020, 10:33 p.m. | Last Modified: 19 Mar 2020, 10:34 p.m.
Panel Version: 0.210

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial encephalomyopathy

Publications

Created: 19 Mar 2020, 10:33 p.m.
Last Modified: 19 Mar 2020, 10:34 p.m.
Panel version: 0.210

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • NHS GMS
  • NHS GMS
Phenotypes
  • Mitochondrial encephalomyopathy
OMIM
616609
Clinvar variants
Variants in TMEM65
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem65 has been classified as Amber List (Moderate Evidence).

19 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tmem65 has been classified as Amber List (Moderate Evidence).

19 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM65 was added gene: TMEM65 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM65 were set to 28295037 Phenotypes for gene: TMEM65 were set to Mitochondrial encephalomyopathy