Activity
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12 actions
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| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | EFCAB1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: EFCAB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | EFCAB1 | Eleanor Williams Tag Q2_25_ promote_green was removed from gene: EFCAB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | EFCAB1 | Eleanor Williams reviewed gene: EFCAB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.49 | EFCAB1 |
Eleanor Williams Source NHS GMS was added to EFCAB1. Source Expert Review Green was added to EFCAB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.41 | EFCAB1 |
Achchuthan Shanmugasundram changed review comment from: EFCAB1 has the gene-disease validity rating of 'Strong' in ClinGen. PMID:36727596 - Three individuals from three unrelated families were identified with three different homozygous variants in EFCAB1 gene (p.Arg98Ter, p.Glu123Ter & p.Glu40Trpfs*16). All three patients presented with situs inversus/ situs ambiguous, while chronic rhino-sinusitis was reported in one, and recurrent pneumonia and respiratory insufficiency were reported in another patient. There is also some functional evidence available. This gene has also been associated with relevant phenotype in OMIM (MIM #620642). Sources: Literature; to: The ClinGen Motile Ciliopathy expert panel has classified the association of EFCAB1 gene to ciliary dyskinesia, primary, 53 (MONDO:0957991) as 'Strong'. More information can be found in https://search.clinicalgenome.org/CCID:008800. PMID:36727596 - Three individuals from three unrelated families were identified with three different homozygous variants in EFCAB1 gene (p.Arg98Ter, p.Glu123Ter & p.Glu40Trpfs*16). All three patients presented with situs inversus/ situs ambiguous, while chronic rhino-sinusitis was reported in one, and recurrent pneumonia and respiratory insufficiency were reported in another patient. There is also some functional evidence available. This gene has also been associated with relevant phenotype in OMIM (MIM #620642). Sources: Literature |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.10 | EFCAB1 | Achchuthan Shanmugasundram Classified gene: EFCAB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.10 | EFCAB1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases and some experimental evidence) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.10 | EFCAB1 | Achchuthan Shanmugasundram Gene: efcab1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.9 | EFCAB1 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: EFCAB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.9 | EFCAB1 | Achchuthan Shanmugasundram commented on gene: EFCAB1: The 'new-gene-name' tag has been added as the official HGNC gene symbol for EFCAB1 is CLXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.9 | EFCAB1 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: EFCAB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.9 | EFCAB1 |
Achchuthan Shanmugasundram gene: EFCAB1 was added gene: EFCAB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFCAB1 were set to 36727596 Phenotypes for gene: EFCAB1 were set to Ciliary dyskinesia, primary, 53, OMIM:620642 Review for gene: EFCAB1 was set to GREEN Added comment: EFCAB1 has the gene-disease validity rating of 'Strong' in ClinGen. PMID:36727596 - Three individuals from three unrelated families were identified with three different homozygous variants in EFCAB1 gene (p.Arg98Ter, p.Glu123Ter & p.Glu40Trpfs*16). All three patients presented with situs inversus/ situs ambiguous, while chronic rhino-sinusitis was reported in one, and recurrent pneumonia and respiratory insufficiency were reported in another patient. There is also some functional evidence available. This gene has also been associated with relevant phenotype in OMIM (MIM #620642). Sources: Literature |
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