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Respiratory ciliopathies including non-CF bronchiectasis v1.55 | OFD1 | Ivone Leong Tag for-review was removed from gene: OFD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.55 | OFD1 | Ivone Leong commented on gene: OFD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.54 | OFD1 |
Ivone Leong Source Expert Review Green was added to OFD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Respiratory ciliopathies including non-CF bronchiectasis v1.13 | OFD1 | Ivone Leong reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.13 | OFD1 | Ivone Leong Mode of inheritance for gene: OFD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.12 | OFD1 | Ivone Leong Tag for-review tag was added to gene: OFD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.12 | OFD1 | Ivone Leong Publications for gene: OFD1 were set to 31366608; 32276433; 31373179; 16783569 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.11 | OFD1 | Ivone Leong Publications for gene: OFD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.10 | OFD1 | Ivone Leong Phenotypes for gene: OFD1 were changed from Ciliopathies; Primary ciliary dyskinesia to Ciliopathies; Primary ciliary dyskinesia; Simpson-Golabi-Behmel syndrome, type 2, OMIM:300209, MONDO:0010265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.9 | OFD1 | Ivone Leong Phenotypes for gene: OFD1 were changed from Ciliopathies to Ciliopathies; Primary ciliary dyskinesia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.7 | OFD1 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.7 | OFD1 | Zornitza Stark edited their review of gene: OFD1: Added comment: The conditions associated with this gene are not primary ciliary dyskinesias. However, note 7 individuals reported with PCD phenotype.; Changed rating: GREEN; Changed publications: 32276433, 31373179; Changed phenotypes: Primary ciliary dyskinesia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.7 | OFD1 |
Simon Thomas changed review comment from: Publication from 2019: Truncating Mutations in Exons 20 and 21 of OFD1 Can Cause Primary Ciliary Dyskinesia Without Associated Syndromic Symptoms. PMID: 31366608 DOI: 10.1136/jmedgenet-2018-105918 . A novel hemizygous truncating mutaion in exon 20 was found by GOSH in a Wessex patient negative for our in-house PCD panel. Sequencing of these exons could be included in the PCD panel or at least reviewed as part of amber gene data collection.; to: Publication from 2019: Truncating Mutations in Exons 20 and 21 of OFD1 Can Cause Primary Ciliary Dyskinesia Without Associated Syndromic Symptoms. PMID: 31366608 DOI: 10.1136/jmedgenet-2018-105918 . A novel hemizygous truncating mutation in OFD1 exon 20 was found by GOSH in a Wessex patient negative for our in-house PCD panel. Sequencing of these exons could be included in the PCD panel or at least reviewed as part of amber gene data collection. |
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Respiratory ciliopathies including non-CF bronchiectasis v1.7 | OFD1 |
Simon Thomas changed review comment from: Publication from 2019: Truncating Mutations in Exons 20 and 21 of OFD1 Can Cause Primary Ciliary Dyskinesia Without Associated Syndromic Symptoms. PMID: 31366608 DOI: 10.1136/jmedgenet-2018-105918 . A novel hemizygous truncating mutaion in exon 20 was found by GOSH in a Wessex patient negative for our in-house PCD panel. Sequencing of these exons could be included in the PCD panels or at least reviewed as part of amber gene data collection.; to: Publication from 2019: Truncating Mutations in Exons 20 and 21 of OFD1 Can Cause Primary Ciliary Dyskinesia Without Associated Syndromic Symptoms. PMID: 31366608 DOI: 10.1136/jmedgenet-2018-105918 . A novel hemizygous truncating mutaion in exon 20 was found by GOSH in a Wessex patient negative for our in-house PCD panel. Sequencing of these exons could be included in the PCD panel or at least reviewed as part of amber gene data collection. |
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Respiratory ciliopathies including non-CF bronchiectasis v1.7 | OFD1 | Simon Thomas commented on gene: OFD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v1.7 | OFD1 | Zornitza Stark reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.34 | OFD1 | Louise Daugherty Added phenotypes Ciliopathies for gene: OFD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.3 | OFD1 |
Louise Daugherty Source Expert Review Amber was added to OFD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Respiratory ciliopathies including non-CF bronchiectasis v0.2 | OFD1 | Louise Daugherty reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Respiratory ciliopathies including non-CF bronchiectasis v0.1 | OFD1 |
Louise Daugherty gene: OFD1 was added gene: OFD1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: OFD1 was set to |