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| Laterality disorders and isomerism v2.3 | DNAAF2 | Sarah Leigh Tag Q2_21_rating was removed from gene: DNAAF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v2.3 | DNAAF2 | Sarah Leigh reviewed gene: DNAAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.42 | DNAAF2 | Ivone Leong commented on gene: DNAAF2: This gene is associated with a relevant disease in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.42 | DNAAF2 | Ivone Leong Tag Q2_21_rating tag was added to gene: DNAAF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.42 | DNAAF2 | Ivone Leong Added comment: Comment on publications: PMID: 32638265 is an additional case in a non-consanguineous Han Chinese family. Proband has compound heterozygous variants in this gene and exhibited typical PCD-related clinical symptoms, including chronic otitis media, and recurrent pneumonia since birth. The proband also had chronic ethmoid and maxillary sinusitis, ring-shaped or ductal opacities throughout both lungs, bilateral lung bronchiectasis, and situs inversus totalis in the heart, liver, and colon. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.42 | DNAAF2 | Ivone Leong Publications for gene: DNAAF2 were set to 19052621; 31107948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.34 | DNAAF2 | Ivone Leong Phenotypes for gene: DNAAF2 were changed from Ciliary dyskinesia, primary, 10, 612518 to Ciliary dyskinesia, primary, 10, OMIM:612518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.33 | DNAAF2 | Ivone Leong Publications for gene: DNAAF2 were set to 19052621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.5 | DNAAF2 | Zornitza Stark reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19052621, 31107948; Phenotypes: Ciliary dyskinesia, primary, 10 612518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.133 | DNAAF2 | Louise Daugherty Classified gene: DNAAF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.133 | DNAAF2 | Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.133 | DNAAF2 | Louise Daugherty Gene: dnaaf2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.74 | DNAAF2 | Louise Daugherty Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10, 612518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.73 | DNAAF2 | Louise Daugherty Mode of inheritance for gene: DNAAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.72 | DNAAF2 | Louise Daugherty Publications for gene: DNAAF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.51 | DNAAF2 | Matthew Edwards reviewed gene: DNAAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19052621; Phenotypes: OMIM 612518 Ciliary dyskinesia, primary, 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.3 | DNAAF2 |
Louise Daugherty Source Expert Review Green was added to DNAAF2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v0.2 | DNAAF2 | Louise Daugherty reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.1 | DNAAF2 |
Louise Daugherty gene: DNAAF2 was added gene: DNAAF2 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAAF2 was set to |
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