Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mitochondrial disorders v2.109 | COQ5 | Arina Puzriakova commented on gene: COQ5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.108 | COQ5 |
Arina Puzriakova Source Expert Review Red was added to COQ5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.5 | COQ5 | Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.412 | COQ5 | Sarah Leigh reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.411 | COQ5 |
Sarah Leigh gene: COQ5 was added gene: COQ5 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ5 were set to 29044765 Phenotypes for gene: COQ5 were set to No OMIM phenotype |