Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.54 | CFAP221 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #279000) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.54 | CFAP221 | Achchuthan Shanmugasundram Phenotypes for gene: CFAP221 were changed from Ciliary dyskinesia, primary, 55, OMIM:279000 to Ciliary dyskinesia, primary, 55, OMIM:279000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.53 | CFAP221 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CFAP221. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | CFAP221 | Eleanor Williams Tag Q2_25_ promote_green was removed from gene: CFAP221. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | CFAP221 | Eleanor Williams reviewed gene: CFAP221: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.49 | CFAP221 |
Eleanor Williams Source NHS GMS was added to CFAP221. Source Expert Review Green was added to CFAP221. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.41 | CFAP221 |
Achchuthan Shanmugasundram changed review comment from: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants. PMID:40250778 - A Polish male patient with PCD was identified with a novel homozygous protein-truncating variant in CFAP221 gene (p.Asp146His). The patient was reported with neonatal respiratory distress, admission to neonatal unit, congenital heart defect, chronic cough, otitis media, and sinusitis, glue ear and conductive hearing loss. This gene has also been associated with relevant phenotypes in OMIM (MIM #279000).; to: The ClinGen Motile Ciliopathy expert panel has classified the association of CFAP221 gene to primary ciliary dyskinesia (MONDO:0016575) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:004421. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants. PMID:40250778 - A Polish male patient with PCD was identified with a novel homozygous protein-truncating variant in CFAP221 gene (p.Asp146His). The patient was reported with neonatal respiratory distress, admission to neonatal unit, congenital heart defect, chronic cough, otitis media, and sinusitis, glue ear and conductive hearing loss. This gene has also been associated with relevant phenotypes in OMIM (MIM #279000). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.17 | CFAP221 | Achchuthan Shanmugasundram Classified gene: CFAP221 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.17 | CFAP221 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available now for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.17 | CFAP221 | Achchuthan Shanmugasundram Gene: cfap221 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.16 | CFAP221 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: CFAP221. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.16 | CFAP221 |
Achchuthan Shanmugasundram changed review comment from: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants. PMID:40250778 - A Polish male patient with PCD was identified with a novel homozygous protein-truncating variant in CFAP221 gene (p.Asp146His). The patient was reported with neonatal respiratory distress, admission to neonatal unit, congenital heart defect, chronic cough, otitis media, and sinusitis, glue ear and conductive hearing loss.; to: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants. PMID:40250778 - A Polish male patient with PCD was identified with a novel homozygous protein-truncating variant in CFAP221 gene (p.Asp146His). The patient was reported with neonatal respiratory distress, admission to neonatal unit, congenital heart defect, chronic cough, otitis media, and sinusitis, glue ear and conductive hearing loss. This gene has also been associated with relevant phenotypes in OMIM (MIM #279000). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.16 | CFAP221 | Achchuthan Shanmugasundram Phenotypes for gene: CFAP221 were changed from Primary ciliary dyskinesia, MONDO:0016575 to Ciliary dyskinesia, primary, 55, OMIM:279000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.15 | CFAP221 | Achchuthan Shanmugasundram Publications for gene: CFAP221 were set to 31636325; 39362668 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.14 | CFAP221 |
Achchuthan Shanmugasundram changed review comment from: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants.; to: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants. PMID:40250778 - A Polish male patient with PCD was identified with a novel homozygous protein-truncating variant in CFAP221 gene (p.Asp146His). The patient was reported with neonatal respiratory distress, admission to neonatal unit, congenital heart defect, chronic cough, otitis media, and sinusitis, glue ear and conductive hearing loss. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.14 | CFAP221 | Achchuthan Shanmugasundram edited their review of gene: CFAP221: Changed publications to: 31636325, 38960684, 39362668, 40250778 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.14 | CFAP221 |
Achchuthan Shanmugasundram edited their review of gene: CFAP221: Added comment: CFAP221 has the gene-disease validity rating of 'Moderate' in ClinGen. There are additional cases reported with primary ciliary dyskinesia now. PMID:38960684 - A 42-year-old male patient with bronchiectasis, sinusitis and a history of infertility treatment for obstructive azoospermia were identified with compound heterozygous deletion variants.; Changed rating: GREEN; Changed publications to: 31636325, 38960684, 39362668; Changed phenotypes to: Ciliary dyskinesia, primary, 55, OMIM:279000 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.14 | CFAP221 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.34 | CFAP221 | Achchuthan Shanmugasundram Classified gene: CFAP221 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.34 | CFAP221 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman, there are two unrelated families reported with biallelic CFAP221 variants and with a PCD phenotype including bronchiectasis. Hence, this gene can be rated amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.34 | CFAP221 | Achchuthan Shanmugasundram Gene: cfap221 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.33 | CFAP221 | Achchuthan Shanmugasundram reviewed gene: CFAP221: Rating: AMBER; Mode of pathogenicity: None; Publications: 31636325, 39362668; Phenotypes: primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.33 | CFAP221 | Achchuthan Shanmugasundram Publications for gene: CFAP221 were set to 31636325 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.25 | CFAP221 | Steven Cowman reviewed gene: CFAP221: Rating: AMBER; Mode of pathogenicity: None; Publications: 31636325, 39362668; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.47 | CFAP221 | Ivone Leong Phenotypes for gene: CFAP221 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.46 | CFAP221 | Ivone Leong Classified gene: CFAP221 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.46 | CFAP221 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is currently not associated with a phenotype in OMIM and Gene2Phenotype. There is not enough evidence to support a gene-disease association. This gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.46 | CFAP221 | Ivone Leong Gene: cfap221 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.45 | CFAP221 |
Zornitza Stark gene: CFAP221 was added gene: CFAP221 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP221 were set to 31636325 Phenotypes for gene: CFAP221 were set to Primary ciliary dyskinesia Review for gene: CFAP221 was set to RED Added comment: WES in 1 family with 3 siblings with clinical symptoms of PCD identified compound heterozygous loss-of-function variants in CFAP221, which segregated with disease. No functional studies. Nasal epithelial cells from 1 of the subjects demonstrated slightly reduced beat frequency, however, waveform analysis revealed that the CFAP221 defective cilia beat in an aberrant circular pattern. A candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||