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Gene: TMEM70

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

• 18953340
• 21147908
• 30950220