| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Brain Calcification v1.83 | MT-ATP6 | Zornitza Stark Marked gene: MT-ATP6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.83 | MT-ATP6 | Zornitza Stark Gene: mt-atp6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.83 | MT-ATP6 | Zornitza Stark Phenotypes for gene: MT-ATP6 were changed from Leigh syndrome, MIM# 256000 to Leigh syndrome, MONDO:0009723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.82 | MT-ATP6 | Zornitza Stark Classified gene: MT-ATP6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.82 | MT-ATP6 | Zornitza Stark Gene: mt-atp6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.81 | MT-ATP6 | Zornitza Stark reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome, MONDO:0009723; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | MT-ATP6 | Yetong Chen edited their review of gene: MT-ATP6: Changed phenotypes: Leigh syndrome, MIM* 516060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | MT-ATP6 |
Yetong Chen gene: MT-ATP6 was added gene: MT-ATP6 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Publications for gene: MT-ATP6 were set to 32042910; 29929013 Phenotypes for gene: MT-ATP6 were set to Leigh syndrome, MIM# 256000 Review for gene: MT-ATP6 was set to RED Added comment: Limited evidence supports the causal role of the MT-ATP6 gene in brain calcification. PMID 32042910 reports a patient (patient P2) with the m.8782G>A: p.(Gly86*) variant in MT-ATP6 who developed basal ganglia calcification. PMID PMID: 29929013 reports a patient with the m.8936T > A variant in MT-ATP6 who developed brain calcification. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||