Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Regression v0.480 IREB2 Zornitza Stark Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Regression v0.479 IREB2 Zornitza Stark edited their review of gene: IREB2: Added comment: Additional individual reported PMID 35602653; Changed publications: 30915432, 31243445, 11175792, 35602653
Regression v0.408 IREB2 Zornitza Stark Marked gene: IREB2 as ready
Regression v0.408 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Regression v0.408 IREB2 Zornitza Stark Classified gene: IREB2 as Green List (high evidence)
Regression v0.408 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Regression v0.407 IREB2 Zornitza Stark gene: IREB2 was added
gene: IREB2 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
Review for gene: IREB2 was set to GREEN
Added comment: Two affected individuals from unrelated families with functional evidence including concordant phenotype in mice.
Sources: Expert Review