Activity
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| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | CEP164 | Eleanor Williams Tag Q2_25_ promote_green was removed from gene: CEP164. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | CEP164 | Eleanor Williams reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.49 | CEP164 |
Eleanor Williams Source NHS GMS was added to CEP164. Source Expert Review Green was added to CEP164. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.41 | CEP164 |
Achchuthan Shanmugasundram changed review comment from: CEP164 has the gene-disease validity rating of 'Definitive' in ClinGen. As per ClinGen curation, seven different variants have been reported in 6 probands in four publications (PMIDs: 22863007, 34132027, 27708425, 36273371), of which 3 probands have been associated with non-CF bronchiectasis. Two of them also had cough, pneumonia, rhinitis and/ or recurrent infections. PMID:22863007 - This study reported four different patients with biallelic CEP164 variants, of which one patient with homozygous variant (p.Arg576Ter) had cerebeller vermis hypoplasia, facial dysmorphism, obesity, bronchiectasis and polydactyly in addition to nephronophthisis. PMID:34556108 - 21 probands from the PCD cohort and 52 probands from non-CF bronchiectasis cohort were recruited in Wessex Genome Medicine Centre (GMC) and their genomes sequenced as part of Genomics England 100k genomes project. Compound heterozygous variants in CEP164 (p.Gln1410Ter/ p.Arg576Ter) were reported in one of these probands from non-CF bronchiectasis cohort. PMID:36273371 - A patient with bronchiectasis was reported with atypical motile ciliopathy phenotype and the same compound heterozygous CEP164 variants as above. Sources: Literature; to: The ClinGen Kidney Cystic and Ciliopathy Disorders expert panel has classified the association of CEP164 gene to ciliopathy (MONDO:0005308) as 'Definitive'. More information can be found in https://search.clinicalgenome.org/CCID:004416. As per ClinGen curation, seven different variants have been reported in 6 probands in four publications (PMIDs: 22863007, 34132027, 27708425, 36273371), of which 3 probands have been associated with non-CF bronchiectasis. Two of them also had cough, pneumonia, rhinitis and/ or recurrent infections. PMID:22863007 - This study reported four different patients with biallelic CEP164 variants, of which one patient with homozygous variant (p.Arg576Ter) had cerebeller vermis hypoplasia, facial dysmorphism, obesity, bronchiectasis and polydactyly in addition to nephronophthisis. PMID:34556108 - 21 probands from the PCD cohort and 52 probands from non-CF bronchiectasis cohort were recruited in Wessex Genome Medicine Centre (GMC) and their genomes sequenced as part of Genomics England 100k genomes project. Compound heterozygous variants in CEP164 (p.Gln1410Ter/ p.Arg576Ter) were reported in one of these probands from non-CF bronchiectasis cohort. PMID:36273371 - A patient with bronchiectasis was reported with atypical motile ciliopathy phenotype and the same compound heterozygous CEP164 variants as above. Sources: Literature |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.6 | CEP164 | Achchuthan Shanmugasundram Classified gene: CEP164 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.6 | CEP164 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated probands reported with biallelic CEP164 variants and non-CF bronchiectasis. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.6 | CEP164 | Achchuthan Shanmugasundram Gene: cep164 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.5 | CEP164 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: CEP164. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.5 | CEP164 |
Achchuthan Shanmugasundram gene: CEP164 was added gene: CEP164 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP164 were set to 22863007; 34556108; 36273371 Phenotypes for gene: CEP164 were set to Nephronophthisis 15, OMIM:614845; Bronchiectasis, HP:0002110 Review for gene: CEP164 was set to GREEN Added comment: CEP164 has the gene-disease validity rating of 'Definitive' in ClinGen. As per ClinGen curation, seven different variants have been reported in 6 probands in four publications (PMIDs: 22863007, 34132027, 27708425, 36273371), of which 3 probands have been associated with non-CF bronchiectasis. Two of them also had cough, pneumonia, rhinitis and/ or recurrent infections. PMID:22863007 - This study reported four different patients with biallelic CEP164 variants, of which one patient with homozygous variant (p.Arg576Ter) had cerebeller vermis hypoplasia, facial dysmorphism, obesity, bronchiectasis and polydactyly in addition to nephronophthisis. PMID:34556108 - 21 probands from the PCD cohort and 52 probands from non-CF bronchiectasis cohort were recruited in Wessex Genome Medicine Centre (GMC) and their genomes sequenced as part of Genomics England 100k genomes project. Compound heterozygous variants in CEP164 (p.Gln1410Ter/ p.Arg576Ter) were reported in one of these probands from non-CF bronchiectasis cohort. PMID:36273371 - A patient with bronchiectasis was reported with atypical motile ciliopathy phenotype and the same compound heterozygous CEP164 variants as above. Sources: Literature |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.56 | Louise Daugherty removed gene:CEP164 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.34 | CEP164 |
Louise Daugherty gene: CEP164 was added gene: CEP164 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Mode of inheritance for gene: CEP164 was set to Phenotypes for gene: CEP164 were set to Ciliopathies |
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