Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Pancreatitis v1.4 CFTR Ivone Leong Marked gene: CFTR as ready
Pancreatitis v1.4 CFTR Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pancreatitis v1.4 CFTR Ivone Leong Gene: cftr has been classified as Green List (High Evidence).
Pancreatitis v1.4 CFTR Ivone Leong reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.3 CFTR Ivone Leong Source NHS GMS was added to CFTR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pancreatitis v0.46 CFTR Ellen McDonagh Phenotypes for gene: CFTR were changed from {Pancreatitis, hereditary} 167800 to {Pancreatitis, hereditary} 167800; Cystic fibrosis 219700
Pancreatitis v0.45 CFTR Ellen McDonagh Classified gene: CFTR as Green List (high evidence)
Pancreatitis v0.45 CFTR Ellen McDonagh Added comment: Comment on list classification: This gene has been promoted from Amber to Green, for the biallelic mode of inheritance, due to comments from Dr Ellen Thomas that exocrine pancreas dysfunction is an indication for diagnostic Cystic Fibrosis testing, and therefore this panel should cover the CFTR gene.
Pancreatitis v0.45 CFTR Ellen McDonagh Gene: cftr has been classified as Green List (High Evidence).
Pancreatitis v0.44 CFTR Ellen McDonagh Added comment: Comment on mode of inheritance: Changed to the biallelic form.
Pancreatitis v0.44 CFTR Ellen McDonagh Mode of inheritance for gene: CFTR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Pancreatitis v0.43 CFTR Ellen Thomas reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Pancreatitis v0.20 CFTR Eleanor Williams Classified gene: CFTR as Amber List (moderate evidence)
Pancreatitis v0.20 CFTR Eleanor Williams Added comment: Comment on list classification: Rating Amber based on feedback from Genomics England clinical team.
Pancreatitis v0.20 CFTR Eleanor Williams Gene: cftr has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.18 CFTR Eleanor Williams Phenotypes for gene: CFTR were changed from to {Pancreatitis, hereditary} 167800
Pancreatitis v0.17 CFTR Eleanor Williams Publications for gene: CFTR were set to
Pancreatitis v0.16 CFTR Eleanor Williams Mode of inheritance for gene: CFTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.15 CFTR Eleanor Williams edited their review of gene: CFTR: Changed publications: 9725921, 15987793, 16134171, 16193325, 11729110, 23951356, 22427236, 25033378, 22658665, 26856995, 27555793, 1345141, 15749233, 25033378, 20977904, 22427236; Changed phenotypes: {Pancreatitis, hereditary} 167800; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.15 CFTR Eleanor Williams commented on gene: CFTR: Checking with Genomics England Clinical team as to the correct rating for this gene.
Pancreatitis v0.15 CFTR Eleanor Williams commented on gene: CFTR
Pancreatitis CFTR Ioannis Sarantitis reviewed gene: CFTR
Pancreatitis CFTR Ellen McDonagh Added gene to panel