Mitochondrial disease
Gene: TMEM70

TMEM70 (transmembrane protein 70)
EnsemblGeneIds (GRCh38): ENSG00000175606
EnsemblGeneIds (GRCh37): ENSG00000175606
OMIM: 612418, Gene2Phenotype
TMEM70 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Initially reported as a founder variant in Roma Gypsies, but multiple unrelated families from different backgrounds reported.
Created: 3 Apr 2022, 9:39 a.m. | Last Modified: 3 Apr 2022, 9:39 a.m.

Panel Version: 0.12492

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052

Publications

Created: 3 Apr 2022, 9:39 a.m.
Last Modified: 3 Apr 2022, 9:39 a.m.
Panel version: Imported from Mendeliome panel version 0.12492

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship
Expert Review Green
Victorian Clinical Genetics Services

OMIM

612418

Clinvar variants

Variants in TMEM70

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM70 was added gene: TMEM70 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM70 was set to Unknown

Mitochondrial disease Gene: TMEM70