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Inborn errors of metabolism

Gene: TMEM65

Amber List (moderate evidence)

TMEM65 (transmembrane protein 65)
EnsemblGeneIds (GRCh38): ENSG00000164983
EnsemblGeneIds (GRCh37): ENSG00000164983
OMIM: 616609, Gene2Phenotype
TMEM65 is in 3 panels

1 review

Catherine Snow (Genomics England)

One case reported in PMID: 28295037 with functional studies
Created: 18 Nov 2019, 4:07 p.m. | Last Modified: 18 Nov 2019, 4:07 p.m.
Panel Version: 1.406

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • TMEM65 related mitochondrial encephalopmyopathy
OMIM
616609
Clinvar variants
Variants in TMEM65
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: TMEM65 was added gene: TMEM65 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list 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 TMEM65 related mitochondrial encephalopmyopathy