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Prepair 1000+

Gene: TMEM70

Green List (high evidence)

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Affected individuals typically present in utero to shortly after birth and outcomes varied from death in the first days of life to still being alive at the time of report in their 20s. Affected individuals have variable features including microcephaly, developmental delay, episodic encephalopathy with febrile illness, hypotonia, hypertrophic cardiomyopathy, persistent pulmonary arterial hypertension, hepatopathy, short stature, and cataract; at least one report included an individual with normal cognitive abilities.
Initially reported as a founder variant in Roma Gypsies, but multiple unrelated families from different backgrounds reported.
ClinGen: While various names have been given to the constellation of features seen in those with TMEM70-related disease, pathogenic variants in this gene cause a primary mitochondrial disease. Therefore, the TMEM70 phenotype has been lumped into one disease entity "mitochondrial disease MONDO:0044970".
Functional studies present, rat model.
Created: 12 Dec 2024, 2:16 a.m. | Last Modified: 12 Dec 2024, 2:16 a.m.
Panel Version: 1.695

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial disease MONDO:0044970

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial disease MONDO:0044970
OMIM
612418
Clinvar variants
Variants in TMEM70
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem70 has been classified as Green List (High Evidence).

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3) to Mitochondrial disease MONDO:0044970

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM70 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM70 was added gene: TMEM70 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)