Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mitochondrial Complex V deficiency, TMEM70 type v0.1 | TMEM70 | Achchuthan Shanmugasundram reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial Complex V deficiency, TMEM70 type v0.1 | TMEM70 |
Achchuthan Shanmugasundram gene: TMEM70 was added gene: TMEM70 was added to Mitochondrial Complex V deficiency, TMEM70 type. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial Complex V deficiency, TMEM70 type v0.0 |
Achchuthan Shanmugasundram Added Panel Mitochondrial Complex V deficiency, TMEM70 type Set list of related panels to R396 Set panel types to: GMS Rare Disease |