Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Pituitary hormone deficiency v2.106 PCSK1 Catherine Snow Tag Q3_22_rating was removed from gene: PCSK1.
Tag Q3_22_NHS_review was removed from gene: PCSK1.
Pituitary hormone deficiency v2.106 PCSK1 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Insufficient evidence to support inclusion in this panel. Patient's have early-onset obesity and gene is green on obesity panel."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Insufficient evidence to support inclusion in this panel. Patient's have early-onset obesity and gene is green on obesity panel."
Pituitary hormone deficiency v2.106 PCSK1 Catherine Snow commented on gene: PCSK1
Pituitary hormone deficiency v2.105 PCSK1 Catherine Snow Source NHS GMS was added to PCSK1.
Pituitary hormone deficiency v2.84 PCSK1 Sarah Leigh Tag Q3_22_rating tag was added to gene: PCSK1.
Tag Q3_22_NHS_review tag was added to gene: PCSK1.
Pituitary hormone deficiency v2.84 PCSK1 Sarah Leigh Classified gene: PCSK1 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.84 PCSK1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Pituitary hormone deficiency v2.84 PCSK1 Sarah Leigh Gene: pcsk1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.83 PCSK1 Sarah Leigh reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v2.83 PCSK1 Sarah Leigh Phenotypes for gene: PCSK1 were changed from to Obesity with impaired prohormone processing, OMIM:600955; obesity due to prohormone convertase I deficiency, MONDO:0010961; {Obesity, susceptibility to, BMIQ12},OMIM:612362
Pituitary hormone deficiency v2.82 PCSK1 Sarah Leigh Publications for gene: PCSK1 were set to
Pituitary hormone deficiency v2.81 PCSK1 Sarah Leigh Mode of inheritance for gene: PCSK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.15 PCSK1 Eleanor Williams reviewed gene: PCSK1: Rating: ; Mode of pathogenicity: ; Publications: 30383237; Phenotypes: CONGENITAL DIARRHOEA, HYPOPITUITARISM, OBESITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.14 PCSK1 Eleanor Williams gene: PCSK1 was added
gene: PCSK1 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: PCSK1 was set to