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Surfactant deficiency v1.9 SFTPA2 Ivone Leong Phenotypes for gene: SFTPA2 were changed from Pulmonary fibrosis, idiopathic, 178500 to Pulmonary fibrosis, idiopathic, OMIM:178500
Surfactant deficiency v1.8 SFTPC Ivone Leong Phenotypes for gene: SFTPC were changed from Surfactant metabolism dysfunction, pulmonary 2, 610913 to Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913
Surfactant deficiency v1.7 SFTPB Ivone Leong Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary 1, 265120 to Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120
Surfactant deficiency v1.6 NKX2-1 Ivone Leong Phenotypes for gene: NKX2-1 were changed from Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
Surfactant deficiency v1.5 ABCA3 Ivone Leong Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary 3, 610921 to Surfactant metabolism dysfunction, pulmonary 3, OMIM:610921
Surfactant deficiency v1.3 Catherine Snow Panel version has been signed off
Surfactant deficiency v1.2 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Surfactant deficiency v1.0 Louise Daugherty promoted panel to version 1.0
Surfactant deficiency v0.29 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Surfactant deficiency v0.28 SFTPD Matthew Edwards changed review comment from: Is currently on Royal Brompton panel; however no variants detected to date. Not enough evidence for inclusion currently.; to: No variants detected by CGGL Royal Brompton to date. Not enough evidence for inclusion currently.
Surfactant deficiency v0.28 SFTPD Matthew Edwards changed review comment from: Is currently on Royal Brompton panel; however no variants detected to date. Not enough evidence for inclusion currently.; to: Is currently on Royal Brompton panel; however no variants detected to date. Not enough evidence for inclusion currently.
Surfactant deficiency v0.28 CSF2RB Louise Daugherty Mode of inheritance for gene: CSF2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Surfactant deficiency v0.27 TERT Louise Daugherty Mode of inheritance for gene: TERT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Surfactant deficiency v0.26 TERT Matthew Edwards reviewed gene: TERT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Surfactant deficiency v0.26 SFTPD Matthew Edwards reviewed gene: SFTPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Surfactant deficiency v0.26 Louise Daugherty List of related panels changed from to R192
Surfactant deficiency v0.25 SFTPC Louise Daugherty commented on gene: SFTPC: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was evidence to rate this gene Green on this panel, test group would further provide MOI and Phenotypes and if possible add PMID to support rating
Surfactant deficiency v0.25 SFTPC Louise Daugherty commented on gene: SFTPC: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Surfactant deficiency v0.25 SFTPC Louise Daugherty Phenotypes for gene: SFTPC were changed from to Surfactant metabolism dysfunction, pulmonary 2, 610913
Surfactant deficiency v0.24 SFTPC Louise Daugherty Publications for gene: SFTPC were set to
Surfactant deficiency v0.23 SFTPC Louise Daugherty Mode of inheritance for gene: SFTPC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Surfactant deficiency v0.22 SFTPB Louise Daugherty commented on gene: SFTPB: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was evidence to rate this gene Green on this panel, test group would further provide MOI and Phenotypes and if possible add PMID to support rating.
Surfactant deficiency v0.22 SFTPB Louise Daugherty changed review comment from: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust); to: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Surfactant deficiency v0.22 SFTPB Louise Daugherty commented on gene: SFTPB: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Surfactant deficiency v0.22 SFTPB Louise Daugherty Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary 1, 265120
Surfactant deficiency v0.21 SFTPB Louise Daugherty Publications for gene: SFTPB were set to
Surfactant deficiency v0.20 SFTPB Louise Daugherty Mode of inheritance for gene: SFTPB was changed from to BIALLELIC, autosomal or pseudoautosomal
Surfactant deficiency v0.19 NKX2-1 Louise Daugherty commented on gene: NKX2-1: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Surfactant deficiency v0.19 NKX2-1 Louise Daugherty Phenotypes for gene: NKX2-1 were changed from to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978
Surfactant deficiency v0.18 NKX2-1 Louise Daugherty Publications for gene: NKX2-1 were set to
Surfactant deficiency v0.17 ABCA3 Louise Daugherty commented on gene: ABCA3: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was evidence to rate this gene Green on this panel, test group would further provide MOI and Phenotypes and if possible add PMID to support rating.
Surfactant deficiency v0.17 ABCA3 Louise Daugherty commented on gene: ABCA3: Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Surfactant deficiency v0.17 ABCA3 Louise Daugherty Deleted their comment
Surfactant deficiency v0.17 ABCA3 Louise Daugherty Deleted their comment
Surfactant deficiency v0.17 ABCA3 Louise Daugherty Deleted their comment
Surfactant deficiency v0.17 NKX2-1 Louise Daugherty Deleted their comment
Surfactant deficiency v0.17 NKX2-1 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Surfactant deficiency v0.17 NKX2-1 Louise Daugherty Mode of inheritance for gene: NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Surfactant deficiency v0.16 ABCA3 Louise Daugherty Publications for gene: ABCA3 were set to 15044640
Surfactant deficiency v0.15 ABCA3 Louise Daugherty edited their review of gene: ABCA3: Changed publications: 17719949
Surfactant deficiency v0.15 ABCA3 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype as recommended by expert reviewer
Surfactant deficiency v0.15 ABCA3 Louise Daugherty Phenotypes for gene: ABCA3 were changed from to Surfactant metabolism dysfunction, pulmonary 3, 610921
Surfactant deficiency v0.14 ABCA3 Louise Daugherty Added comment: Comment on publications: added PMID from expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust) to support gene and rating on this panel
Surfactant deficiency v0.14 ABCA3 Louise Daugherty Publications for gene: ABCA3 were set to
Surfactant deficiency v0.13 ABCA3 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Surfactant deficiency v0.13 ABCA3 Louise Daugherty Mode of inheritance for gene: ABCA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Surfactant deficiency v0.12 SFTPA2 Louise Daugherty Added comment: Comment on publications: added publications suggested by external review Matthew Edwards
Surfactant deficiency v0.12 SFTPA2 Louise Daugherty Publications for gene: SFTPA2 were set to
Surfactant deficiency v0.11 CSF2RB Matthew Edwards reviewed gene: CSF2RB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Surfactant deficiency v0.11 SFTPA2 Matthew Edwards reviewed gene: SFTPA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19100526, 26568241; Phenotypes: Pulmonary fibrosis, idiopathic (OMIM: 178500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Surfactant deficiency v0.11 SFTPC Matthew Edwards reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11207353, 19443464; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2 (OMIM: 610913); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Surfactant deficiency v0.11 SFTPB Matthew Edwards reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 12501227, 10712351; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1 (OMIM: 265120); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Surfactant deficiency v0.11 NKX2-1 Matthew Edwards changed review comment from: On Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel, andl pathogenic variants reported . Multiple reports in literature and ClinVar. Strong evidence for association.; to: On Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel, and pathogenic variants reported . Multiple reports in literature and ClinVar. Strong evidence for association.
Surfactant deficiency v0.11 NKX2-1 Matthew Edwards reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23787483, 15289765; Phenotypes: Neuroendocrine cell hyperplasia of infancy, Choreoathetosis, hypothyroidism, and neonatal respiratory distress (OMIM 610978); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Surfactant deficiency v0.11 ABCA3 Matthew Edwards reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15044640; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3 (OMIM: 610921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Surfactant deficiency v0.10 SFTPA2 Louise Daugherty Classified gene: SFTPA2 as Amber List (moderate evidence)
Surfactant deficiency v0.10 SFTPA2 Louise Daugherty Added comment: Comment on list classification: Awaiting feeback/evidence from GOSH, during the GMS Respiratory Specialist Test Group webex call 18th Jan 2019
Surfactant deficiency v0.10 SFTPA2 Louise Daugherty Gene: sftpa2 has been classified as Amber List (Moderate Evidence).
Surfactant deficiency v0.9 SFTPA2 Louise Daugherty gene: SFTPA2 was added
gene: SFTPA2 was added to Surfactant deficiency. Sources: Expert list
Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic, 178500
Review for gene: SFTPA2 was set to AMBER
Added comment: Gene added to panel as suggestion from GMS Respiratory Specialist Test Group webex call 18th Jan 2019- To check with GOSH regarding inclusion/rating before versioning panel
Sources: Expert list
Surfactant deficiency v0.8 TERT Louise Daugherty edited their review of gene: TERT: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel, so rating was downgraded to Red; Changed rating: RED
Surfactant deficiency v0.8 NKX2-1 Louise Daugherty commented on gene: NKX2-1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green
Surfactant deficiency v0.8 CSF2RB Louise Daugherty edited their review of gene: CSF2RB: Changed rating: RED
Surfactant deficiency v0.8 CSF2RB Louise Daugherty commented on gene: CSF2RB: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel, so rating was downgraded to Red
Surfactant deficiency v0.8 SFTPD Louise Daugherty edited their review of gene: SFTPD: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel; Changed rating: RED
Surfactant deficiency v0.8 NKX2-1 Anna de Burca Classified gene: NKX2-1 as Green List (high evidence)
Surfactant deficiency v0.8 NKX2-1 Anna de Burca Added comment: Comment on list classification: Discussed with respiratory specialist test group on 18/01/19. Could present with respiratory distress secondary to hypothyroidism before other syndromic features are recognised, therefore appropriate for inclusion on this panel.
Surfactant deficiency v0.8 NKX2-1 Anna de Burca Gene: nkx2-1 has been classified as Green List (High Evidence).
Surfactant deficiency v0.7 CSF2RB Anna de Burca Classified gene: CSF2RB as Red List (low evidence)
Surfactant deficiency v0.7 CSF2RB Anna de Burca Added comment: Comment on list classification: Would not be expected to present in neonates, which are the intended target of this panel.
Surfactant deficiency v0.7 CSF2RB Anna de Burca Gene: csf2rb has been classified as Red List (Low Evidence).
Surfactant deficiency v0.6 TERT Anna de Burca Classified gene: TERT as Red List (low evidence)
Surfactant deficiency v0.6 TERT Anna de Burca Added comment: Comment on list classification: Would not be expected to present in neonates, which are the intended target of this panel.
Surfactant deficiency v0.6 TERT Anna de Burca Gene: tert has been classified as Red List (Low Evidence).
Surfactant deficiency v0.5 SFTPD Anna de Burca Classified gene: SFTPD as Red List (low evidence)
Surfactant deficiency v0.5 SFTPD Anna de Burca Added comment: Comment on list classification: No reported mutations in humans.
Surfactant deficiency v0.5 SFTPD Anna de Burca Gene: sftpd has been classified as Red List (Low Evidence).
Surfactant deficiency v0.3 TERT Louise Daugherty Source Expert Review Amber was added to TERT.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Surfactant deficiency v0.3 NKX2-1 Louise Daugherty Source Expert Review Green was added to NKX2-1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.3 CSF2RB Louise Daugherty Source Expert Review Green was added to CSF2RB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.3 SFTPD Louise Daugherty Source Expert Review Green was added to SFTPD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.3 SFTPC Louise Daugherty Source Expert Review Green was added to SFTPC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.3 SFTPB Louise Daugherty Source Expert Review Green was added to SFTPB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.3 ABCA3 Louise Daugherty Source Expert Review Green was added to ABCA3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.2 TERT Louise Daugherty reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 NKX2-1 Louise Daugherty reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 CSF2RB Louise Daugherty reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 SFTPD Louise Daugherty reviewed gene: SFTPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 SFTPC Louise Daugherty reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 SFTPB Louise Daugherty reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 ABCA3 Louise Daugherty reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.1 TERT Louise Daugherty gene: TERT was added
gene: TERT was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: TERT was set to
Surfactant deficiency v0.1 NKX2-1 Louise Daugherty gene: NKX2-1 was added
gene: NKX2-1 was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: NKX2-1 was set to
Surfactant deficiency v0.1 CSF2RB Louise Daugherty gene: CSF2RB was added
gene: CSF2RB was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: CSF2RB was set to
Surfactant deficiency v0.1 SFTPD Louise Daugherty gene: SFTPD was added
gene: SFTPD was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: SFTPD was set to
Surfactant deficiency v0.1 SFTPC Louise Daugherty gene: SFTPC was added
gene: SFTPC was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: SFTPC was set to
Surfactant deficiency v0.1 SFTPB Louise Daugherty gene: SFTPB was added
gene: SFTPB was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: SFTPB was set to
Surfactant deficiency v0.1 ABCA3 Louise Daugherty gene: ABCA3 was added
gene: ABCA3 was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: ABCA3 was set to
Surfactant deficiency v0.0 Ellen McDonagh Added Panel Surfactant deficiency
Set panel types to: GMS Rare Disease