Activity

Filter

Cancel
Date Panel Item Activity
69 actions
Non-CF bronchiectasis v1.29 DAW1 Sarah Leigh changed review comment from: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder.
Sources: Literature; to: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder. Helen Brittain (Genomics England, Clinical Fellow) agreed that DAW1 should be green on this panel.
Sources: Literature
Non-CF bronchiectasis v1.29 DAW1 Sarah Leigh Classified gene: DAW1 as Green List (high evidence)
Non-CF bronchiectasis v1.29 DAW1 Sarah Leigh Gene: daw1 has been classified as Green List (High Evidence).
Non-CF bronchiectasis v1.28 DAW1 Sarah Leigh Tag Q4_22_MOI was removed from gene: DAW1.
Tag Q4_22_promote_green was removed from gene: DAW1.
Non-CF bronchiectasis v1.28 DAW1 Sarah Leigh gene: DAW1 was added
gene: DAW1 was added to Non-CF bronchiectasis. Sources: Literature
Q4_22_MOI, Q4_22_promote_green tags were added to gene: DAW1.
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124; 28991257
Phenotypes for gene: DAW1 were set to motile ciliopathy laterality disorder
Review for gene: DAW1 was set to GREEN
Added comment: DAW1 is not in OMIM, Gen2Phen or MONDO. PMID: 36074124 reports five variants in four unrelated cases with a motile ciliopathy / laterality disorder.
Sources: Literature
Non-CF bronchiectasis v1.27 PIK3CD Arina Puzriakova Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14A, autosomal dominant, OMIM:615513
Non-CF bronchiectasis v1.26 DNAH5 Ivone Leong Classified gene: DNAH5 as Green List (high evidence)
Non-CF bronchiectasis v1.26 DNAH5 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review from Zerin Hyder (Genomics England).
Non-CF bronchiectasis v1.26 DNAH5 Ivone Leong Gene: dnah5 has been classified as Green List (High Evidence).
Non-CF bronchiectasis v1.25 DNAH5 Ivone Leong Publications for gene: DNAH5 were set to
Non-CF bronchiectasis v1.24 DNAH5 Ivone Leong Phenotypes for gene: DNAH5 were changed from Bronchiectasis to Bronchiectasis; Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644; situs inversus
Non-CF bronchiectasis v1.23 DNAH5 Ivone Leong Mode of inheritance for gene: DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Non-CF bronchiectasis v1.22 DNAH5 Zerin Hyder reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18037990, 11788826; Phenotypes: Primary Ciliary Dyskinesia, Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644, situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Non-CF bronchiectasis v1.22 CCDC39 Catherine Snow Classified gene: CCDC39 as Red List (low evidence)
Non-CF bronchiectasis v1.22 CCDC39 Catherine Snow Gene: ccdc39 has been classified as Red List (Low Evidence).
Non-CF bronchiectasis v1.21 CCDC39 Catherine Snow Deleted their review
Non-CF bronchiectasis v1.21 CCDC40 Catherine Snow Classified gene: CCDC40 as Red List (low evidence)
Non-CF bronchiectasis v1.21 CCDC40 Catherine Snow Gene: ccdc40 has been classified as Red List (Low Evidence).
Non-CF bronchiectasis v1.20 CCDC40 Catherine Snow Deleted their review
Non-CF bronchiectasis v1.20 DNAAF1 Catherine Snow Classified gene: DNAAF1 as Red List (low evidence)
Non-CF bronchiectasis v1.20 DNAAF1 Catherine Snow Gene: dnaaf1 has been classified as Red List (Low Evidence).
Non-CF bronchiectasis v1.19 DNAAF1 Catherine Snow Deleted their review
Non-CF bronchiectasis v1.19 DNAAF2 Catherine Snow Classified gene: DNAAF2 as Red List (low evidence)
Non-CF bronchiectasis v1.19 DNAAF2 Catherine Snow Gene: dnaaf2 has been classified as Red List (Low Evidence).
Non-CF bronchiectasis v1.18 DNAAF2 Catherine Snow Deleted their review
Non-CF bronchiectasis v1.18 DNAH11 Catherine Snow Classified gene: DNAH11 as Red List (low evidence)
Non-CF bronchiectasis v1.18 DNAH11 Catherine Snow Gene: dnah11 has been classified as Red List (Low Evidence).
Non-CF bronchiectasis v1.17 DNAH11 Catherine Snow Deleted their review
Non-CF bronchiectasis v1.17 DNAH5 Catherine Snow Classified gene: DNAH5 as Red List (low evidence)
Non-CF bronchiectasis v1.17 DNAH5 Catherine Snow Gene: dnah5 has been classified as Red List (Low Evidence).
Non-CF bronchiectasis v1.16 DNAH5 Catherine Snow Deleted their review
Non-CF bronchiectasis v1.16 DNAI1 Catherine Snow Classified gene: DNAI1 as Red List (low evidence)
Non-CF bronchiectasis v1.16 DNAI1 Catherine Snow Gene: dnai1 has been classified as Red List (Low Evidence).
Non-CF bronchiectasis v1.15 DNAI1 Catherine Snow Deleted their review
Non-CF bronchiectasis v1.15 DNAL1 Catherine Snow Classified gene: DNAL1 as Red List (low evidence)
Non-CF bronchiectasis v1.15 DNAL1 Catherine Snow Gene: dnal1 has been classified as Red List (Low Evidence).
Non-CF bronchiectasis v1.14 DNAL1 Catherine Snow Deleted their review
Non-CF bronchiectasis v1.14 DNAI2 Catherine Snow Classified gene: DNAI2 as Red List (low evidence)
Non-CF bronchiectasis v1.14 DNAI2 Catherine Snow Gene: dnai2 has been classified as Red List (Low Evidence).
Non-CF bronchiectasis v1.13 DNAI2 Catherine Snow Deleted their review
Non-CF bronchiectasis v1.13 DNAI2 Catherine Snow Deleted their comment
Non-CF bronchiectasis v1.13 DNAL1 Catherine Snow Classified gene: DNAL1 as Green List (high evidence)
Non-CF bronchiectasis v1.13 DNAL1 Catherine Snow Added comment: Comment on list classification: Flagged by expert reviewer that gene should be Green on this panel. Gene has been reviewed Green on the Respiratory ciliopathies including non-CF bronchiectasis for GMS and so updating 100k panel to represent this.
Non-CF bronchiectasis v1.13 DNAL1 Catherine Snow Gene: dnal1 has been classified as Green List (High Evidence).
Non-CF bronchiectasis v1.12 DNAI2 Catherine Snow Classified gene: DNAI2 as Green List (high evidence)
Non-CF bronchiectasis v1.12 DNAI2 Catherine Snow Added comment: Comment on list classification: Flagged by expert reviewer that gene should be Green on this panel. Gene has been reviewed Green on the Respiratory ciliopathies including non-CF bronchiectasis for GMS and so updating 100k panel to represent this.
Non-CF bronchiectasis v1.12 DNAI2 Catherine Snow Gene: dnai2 has been classified as Green List (High Evidence).
Non-CF bronchiectasis v1.11 DNAI1 Catherine Snow Classified gene: DNAI1 as Green List (high evidence)
Non-CF bronchiectasis v1.11 DNAI1 Catherine Snow Added comment: Comment on list classification: Flagged by expert reviewer that gene should be Green on this panel. Gene has been reviewed Green on the Respiratory ciliopathies including non-CF bronchiectasis for GMS and so updating 100k panel to represent this.
Non-CF bronchiectasis v1.11 DNAI1 Catherine Snow Gene: dnai1 has been classified as Green List (High Evidence).
Non-CF bronchiectasis v1.10 DNAH5 Catherine Snow Classified gene: DNAH5 as Green List (high evidence)
Non-CF bronchiectasis v1.10 DNAH5 Catherine Snow Added comment: Comment on list classification: Flagged by expert reviewer that gene should be Green on this panel. Gene has been reviewed Green on the Respiratory ciliopathies including non-CF bronchiectasis for GMS and so updating 100k panel to represent this.
Non-CF bronchiectasis v1.10 DNAH5 Catherine Snow Gene: dnah5 has been classified as Green List (High Evidence).
Non-CF bronchiectasis v1.9 DNAH11 Catherine Snow Classified gene: DNAH11 as Green List (high evidence)
Non-CF bronchiectasis v1.9 DNAH11 Catherine Snow Added comment: Comment on list classification: Flagged by expert reviewer that gene should be Green on this panel. Gene has been reviewed Green on the Respiratory ciliopathies including non-CF bronchiectasis for GMS and so updating 100k panel to represent this.
Non-CF bronchiectasis v1.9 DNAH11 Catherine Snow Gene: dnah11 has been classified as Green List (High Evidence).
Non-CF bronchiectasis v1.8 DNAAF2 Catherine Snow Classified gene: DNAAF2 as Green List (high evidence)
Non-CF bronchiectasis v1.8 DNAAF2 Catherine Snow Added comment: Comment on list classification: Flagged by expert reviewer that gene should be Green on this panel. Gene has been reviewed Green on the Respiratory ciliopathies including non-CF bronchiectasis for GMS and so updating 100k panel to represent this.
Non-CF bronchiectasis v1.8 DNAAF2 Catherine Snow Gene: dnaaf2 has been classified as Green List (High Evidence).
Non-CF bronchiectasis v1.7 DNAAF1 Catherine Snow Classified gene: DNAAF1 as Green List (high evidence)
Non-CF bronchiectasis v1.7 DNAAF1 Catherine Snow Added comment: Comment on list classification: Flagged by expert reviewer that gene should be Green on this panel. Gene has been reviewed Green on the Respiratory ciliopathies including non-CF bronchiectasis for GMS and so updating 100k panel to represent this.
Non-CF bronchiectasis v1.7 DNAAF1 Catherine Snow Gene: dnaaf1 has been classified as Green List (High Evidence).
Non-CF bronchiectasis v1.6 CCDC40 Catherine Snow Classified gene: CCDC40 as Green List (high evidence)
Non-CF bronchiectasis v1.6 CCDC40 Catherine Snow Added comment: Comment on list classification: Flagged by expert reviewer that gene should be Green on this panel. Gene has been reviewed Green on the Respiratory ciliopathies including non-CF bronchiectasis for GMS and so updating 100k panel to represent this.
Non-CF bronchiectasis v1.6 CCDC40 Catherine Snow Gene: ccdc40 has been classified as Green List (High Evidence).
Non-CF bronchiectasis v1.5 CCDC39 Catherine Snow Classified gene: CCDC39 as Green List (high evidence)
Non-CF bronchiectasis v1.5 CCDC39 Catherine Snow Added comment: Comment on list classification: Flagged by expert reviewer that gene should be Green on this panel. Gene has been reviewed Green on the Respiratory ciliopathies including non-CF bronchiectasis for GMS and so updating 100k panel to represent this.
Non-CF bronchiectasis v1.5 CCDC39 Catherine Snow Gene: ccdc39 has been classified as Green List (High Evidence).
Non-CF bronchiectasis CFTR Ellen McDonagh edited their review of CFTR