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| Heterotaxy v1.27 | EFCAB1 |
Chirag Patel gene: EFCAB1 was added gene: EFCAB1 was added to Heterotaxy. Sources: Literature Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFCAB1 were set to PMID: 36727596 Phenotypes for gene: EFCAB1 were set to Primary ciliary dyskinesia and heterotaxy, no OMIM # Review for gene: EFCAB1 was set to GREEN Added comment: WES in 3 individuals with laterality defects and respiratory symptoms, identified homozygous pathogenic variants in CLXN (EFCAB1). They found Clxn expressed in mice left-right organizer. Transmission electron microscopy depicted outer dynein arm (ODA) defects in distal ciliary axonemes. Immunofluorescence microscopy revealed absence of CLXN from the ciliary axonemes, absence of the ODA components DNAH5, DNAI1 and DNAI2 from the distal axonemes, as well as mislocalization or absence of DNAH9. Additionally, CLXN is undetectable in ciliary axonemes of individuals with defects in the outer dynein arm docking (ODA-DC) machinery: ODAD1, ODAD2, ODAD3 and ODAD4. Moreover, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility. Sources: Literature |
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| Heterotaxy v1.20 | DNAH9 | Zornitza Stark reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 35116053, 35050399; Phenotypes: Ciliary dyskinesia, primary, 40 618300, Heterotaxy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.84 | DNAH9 | Zornitza Stark Marked gene: DNAH9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.84 | DNAH9 | Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.84 | DNAH9 | Zornitza Stark Classified gene: DNAH9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.84 | DNAH9 | Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.75 | DNAH9 |
Elena Savva gene: DNAH9 was added gene: DNAH9 was added to Heterotaxy. Sources: Expert list Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH9 were set to PMID: 30471717; 30471718 Phenotypes for gene: DNAH9 were set to Ciliary dyskinesia, primary, 40 618300 Review for gene: DNAH9 was set to GREEN Added comment: OMIM: Situs inversus of the heart PMID: 30471717 - 4 patients (3 families) all with PCD and situs inversus. PMID: 30471718 - 5 families with situs inversus totalis and/or heterotaxy Sources: Expert list |
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