Activity

Filter

Cancel
Date Panel Item Activity
25 actions
Intellectual disability - microarray and sequencing v2.531 PCGF2 Louise Daugherty edited their review of gene: PCGF2: Changed rating: GREEN
Intellectual disability - microarray and sequencing v2.515 PCGF2 Louise Daugherty Mode of pathogenicity for gene: PCGF2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability - microarray and sequencing v2.514 PCGF2 Louise Daugherty Added comment: Comment on publications: Added PMID: 30343942 to support upgrading of this gene to green
Intellectual disability - microarray and sequencing v2.514 PCGF2 Louise Daugherty Publications for gene: PCGF2 were set to 25529582; 25533962
Intellectual disability - microarray and sequencing v2.513 PCGF2 Louise Daugherty Phenotypes for gene: PCGF2 were changed from Intellectual disability; dysmorphic features; Global developmental delay; Intellectual disability; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system to Intellectual disability; dysmorphic features; Global developmental delay; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system
Intellectual disability - microarray and sequencing v2.512 PCGF2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by external reviewer/ from PMID:30343942
Intellectual disability - microarray and sequencing v2.512 PCGF2 Louise Daugherty Phenotypes for gene: PCGF2 were changed from Intellectual disability; dysmorphic features to Intellectual disability; dysmorphic features; Global developmental delay; Intellectual disability; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system
Intellectual disability - microarray and sequencing v2.511 PCGF2 Louise Daugherty Classified gene: PCGF2 as Green List (high evidence)
Intellectual disability - microarray and sequencing v2.511 PCGF2 Louise Daugherty Added comment: Comment on list classification: Recent publication suggested by external reviewer PMID: 30343942 supports the rating of this gene to be Green
Intellectual disability - microarray and sequencing v2.511 PCGF2 Louise Daugherty Gene: pcgf2 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v2.510 PCGF2 Louise Daugherty commented on gene: PCGF2: removed watchlist tag
Intellectual disability - microarray and sequencing v2.510 PCGF2 Louise Daugherty Deleted their comment
Intellectual disability - microarray and sequencing v2.510 PCGF2 Louise Daugherty commented on gene: PCGF2: removed watchlist tag
Intellectual disability - microarray and sequencing v2.510 PCGF2 Louise Daugherty Tag watchlist was removed from gene: PCGF2.
Intellectual disability - microarray and sequencing v2.510 PCGF2 Konstantinos Varvagiannis reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Global developmental delay, Intellectual disability, Abnormality of the cardiovascular system, Abnormality of the cerebrum, Abnormality of the skeletal system; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability - microarray and sequencing v2.509 PCGF2 Louise Daugherty commented on gene: PCGF2: Added watchlist tag.
Intellectual disability - microarray and sequencing v2.509 PCGF2 Louise Daugherty Tag watchlist tag was added to gene: PCGF2.
Intellectual disability - microarray and sequencing PCGF2 Louise Daugherty classified PCGF2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing PCGF2 Louise Daugherty commented on gene: PCGF2
Intellectual disability - microarray and sequencing PCGF2 Louise Daugherty classified PCGF2 as Green List (high evidence)
Intellectual disability - microarray and sequencing PCGF2 Louise Daugherty commented on gene: PCGF2
Intellectual disability - microarray and sequencing PCGF2 Louise Daugherty classified PCGF2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing PCGF2 Louise Daugherty reviewed gene: PCGF2
Intellectual disability - microarray and sequencing PCGF2 Zornitza Stark commented on gene: PCGF2
Intellectual disability - microarray and sequencing PCGF2 Zornitza Stark reviewed gene: PCGF2