| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Optic Atrophy v1.17 | NDUFA12 |
Suliman Khan changed review comment from: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients had optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356. Sources: Literature; to: 9 individuals form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients had optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.17 | NDUFA12 | Zornitza Stark Marked gene: NDUFA12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.17 | NDUFA12 | Zornitza Stark Gene: ndufa12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.17 | NDUFA12 | Zornitza Stark Classified gene: NDUFA12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.17 | NDUFA12 | Zornitza Stark Gene: ndufa12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.16 | NDUFA12 |
Suliman Khan changed review comment from: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients have optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356. Sources: Literature; to: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients had optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.16 | NDUFA12 |
Suliman Khan gene: NDUFA12 was added gene: NDUFA12 was added to Optic Atrophy. Sources: Literature Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to PMID: 35141356 Phenotypes for gene: NDUFA12 were set to isolated optic atrophy; MONDO:0003608 Review for gene: NDUFA12 was set to GREEN Added comment: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients have optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||