Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Incidentalome v0.405 PARK7 Zornitza Stark Marked gene: PARK7 as ready
Incidentalome v0.405 PARK7 Zornitza Stark Gene: park7 has been classified as Green List (High Evidence).
Incidentalome v0.405 PARK7 Zornitza Stark Phenotypes for gene: PARK7 were changed from to Parkinson disease 7, autosomal recessive early-onset MIM#606324
Incidentalome v0.404 PARK7 Zornitza Stark Publications for gene: PARK7 were set to 11462174; 11835383; 16240358; 20301402; 29644727
Incidentalome v0.404 PARK7 Zornitza Stark Publications for gene: PARK7 were set to
Incidentalome v0.403 PARK7 Zornitza Stark Mode of inheritance for gene: PARK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.226 PARK7 Sangavi Sivagnanasundram changed review comment from: Note that the gene was renamed from DJ1 to PARK7 (articles and OMIM reference our gene with previous name)

Variants in PARK7 (DJ1) gene are a rare cause of Parkinson Disease and is currently only reported in 3 individuals from 3 unrelated families.

PMID: 11462174; 11835383 – 2 individuals from 2 unrelated families with variants in DJ1 that were causative of Parkinson Disease.

PMID: 16240358 – 3 affected sibs from a consanguineous Italian family; to: Note that the gene was renamed from DJ1 to PARK7 (articles and OMIM reference our gene with previous name)

Variants in PARK7 (DJ1) gene are a rare cause of Parkinson Disease and is currently only reported in 3 individuals from 3 unrelated families.

PMID: 11462174; 11835383 – 2 individuals from 2 unrelated families with variants in DJ1 that were causative of Parkinson Disease.

PMID: 16240358 – 3 affected sibs from a consanguineous Italian family
Incidentalome v0.226 PARK7 Sangavi Sivagnanasundram reviewed gene: PARK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 11462174, 11835383, 16240358, 20301402; Phenotypes: Parkinson Disease (MONDO:0005180, MIM: 606324); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.0 PARK7 Zornitza Stark gene: PARK7 was added
gene: PARK7 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PARK7 was set to Unknown