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Respiratory ciliopathies including non-CF bronchiectasis v1.55 | RPGR | Ivone Leong Tag for-review was removed from gene: RPGR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.55 | RPGR | Ivone Leong commented on gene: RPGR: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.54 | RPGR |
Ivone Leong Source Expert Review Green was added to RPGR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Respiratory ciliopathies including non-CF bronchiectasis v1.42 | RPGR |
Gabrielle Wheway changed review comment from: Although few cases of PCD associated with RPGR variants have been published, the PCD diagnostic centre at University Hospital Southampton has diagnosed 5 cases of PCD where RPGR missense variants have been judged to be the cause of disease. 4 cases have stop gains in RPGR, 3 of whom had PCD diagnosed before eye disease and 1 of whom is an adult whose wet cough and rhinitis started in very early childhood before eye symptoms, but was diagnosed with RP before PCD (due to late referral for PCD rather than lack of symptoms). i.e. in all cases lung disease preceded eye disease. 1 case has a pathogenic missense mutation and is an adult who only has PCD, no eye disease. I am submitting this review as a researcher who works closely with the diagnostic service at UHS and Wessex Clinical Genetics Lab. The fact that RPGR has been downgraded to Amber was raised at our recent PCD genetics MDT and Prof Jane Lucas, who leads the diagnostic service at UHS asked me to submit a review to provide support for this gene being a 'Green' gene. ; to: Although few cases of PCD associated with RPGR variants have been published, the PCD diagnostic centre at University Hospital Southampton has diagnosed 5 cases of PCD where RPGR variants have been judged to be the cause of disease. 4 cases have stop gains in RPGR, 3 of whom had PCD diagnosed before eye disease and 1 of whom is an adult whose wet cough and rhinitis started in very early childhood before eye symptoms, but was diagnosed with RP before PCD (due to late referral for PCD rather than lack of symptoms). i.e. in all cases lung disease preceded eye disease. 1 case has a pathogenic missense mutation and is an adult who only has PCD, no eye disease. I am submitting this review as a researcher who works closely with the diagnostic service at UHS and Wessex Clinical Genetics Lab. The fact that RPGR has been downgraded to Amber was raised at our recent PCD genetics MDT and Prof Jane Lucas, who leads the diagnostic service at UHS asked me to submit a review to provide support for this gene being a 'Green' gene. |
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Respiratory ciliopathies including non-CF bronchiectasis v1.42 | RPGR |
Gabrielle Wheway changed review comment from: Although few cases of PCD have been reported associated with RPGR variants, the PCD diagnostic centre at University Hospital Southampton has diagnosed a number of PCD cases where RPGR missense variants have been judged to be the cause of disease. At least one of these cases is isolated PCD, with no evidence of RP (the patient has been seen by the eye clinic). I am submitting this review as a researcher who works closely with the diagnostic service at UHS and Wessex Clinical Genetics Lab. The fact that RPGR has been downgraded to Amber was raised at our recent PCD genetics MDT and Prof Jane Lucas, who leads the diagnostic service at UHS asked me to submit a review to provide support for this gene being a 'Green' gene. Prof Lucas will register as a PanelApp reviewer to add additional detail.; to: Although few cases of PCD associated with RPGR variants have been published, the PCD diagnostic centre at University Hospital Southampton has diagnosed 5 cases of PCD where RPGR missense variants have been judged to be the cause of disease. 4 cases have stop gains in RPGR, 3 of whom had PCD diagnosed before eye disease and 1 of whom is an adult whose wet cough and rhinitis started in very early childhood before eye symptoms, but was diagnosed with RP before PCD (due to late referral for PCD rather than lack of symptoms). i.e. in all cases lung disease preceded eye disease. 1 case has a pathogenic missense mutation and is an adult who only has PCD, no eye disease. I am submitting this review as a researcher who works closely with the diagnostic service at UHS and Wessex Clinical Genetics Lab. The fact that RPGR has been downgraded to Amber was raised at our recent PCD genetics MDT and Prof Jane Lucas, who leads the diagnostic service at UHS asked me to submit a review to provide support for this gene being a 'Green' gene. |
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Respiratory ciliopathies including non-CF bronchiectasis v1.42 | RPGR | Gabrielle Wheway reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 16055928, PMID: 22888088; Phenotypes: primary ciliary dyskinesia, non-CF bronchiectasis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.29 | RPGR | Ivone Leong edited their review of gene: RPGR: Added comment: This gene is associated with an appropriate phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.29 | RPGR | Ivone Leong Tag for-review tag was added to gene: RPGR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.29 | RPGR | Ivone Leong Added comment: Comment on publications: PMID: 22888088 and 14627685 are extra cases | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.29 | RPGR | Ivone Leong Publications for gene: RPGR were set to 10094550; 12920075; 16055928 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.28 | RPGR | Ivone Leong Phenotypes for gene: RPGR were changed from Ciliopathies to Ciliopathies; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, OMIM:300455; primary ciliary dyskinesia-retinitis pigmentosa syndrome, MONDO:0010330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.27 | RPGR | Ivone Leong Publications for gene: RPGR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.7 | RPGR | Zornitza Stark reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094550, 12920075, 16055928; Phenotypes: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.138 | RPGR | Louise Daugherty commented on gene: RPGR: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019; Agreed to keep Amber, not enough evidence to upgrade to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.128 | Louise Daugherty removed gene:RPGRIP1L from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.127 | Louise Daugherty removed gene:RPGRIP1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.34 | RPGRIP1L |
Louise Daugherty gene: RPGRIP1L was added gene: RPGRIP1L was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Mode of inheritance for gene: RPGRIP1L was set to Phenotypes for gene: RPGRIP1L were set to Ciliopathies |
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Respiratory ciliopathies including non-CF bronchiectasis v0.34 | RPGRIP1 |
Louise Daugherty gene: RPGRIP1 was added gene: RPGRIP1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Mode of inheritance for gene: RPGRIP1 was set to Phenotypes for gene: RPGRIP1 were set to Ciliopathies |
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Respiratory ciliopathies including non-CF bronchiectasis v0.34 | RPGR |
Louise Daugherty Mode of inheritance for gene RPGR was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Ciliopathies for gene: RPGR |
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Respiratory ciliopathies including non-CF bronchiectasis v0.3 | RPGR |
Louise Daugherty Source Expert Review Amber was added to RPGR. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Respiratory ciliopathies including non-CF bronchiectasis v0.2 | RPGR | Louise Daugherty reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.1 | RPGR |
Louise Daugherty gene: RPGR was added gene: RPGR was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: RPGR was set to |