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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)
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.
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.
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)
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