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| Ciliary Dyskinesia v1.34 | TUBB4B | Zornitza Stark Marked gene: TUBB4B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.34 | TUBB4B | Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.34 | TUBB4B | Zornitza Stark Phenotypes for gene: TUBB4B were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.33 | TUBB4B | Chirag Patel Classified gene: TUBB4B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.33 | TUBB4B | Chirag Patel Gene: tubb4b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.32 | TUBB4B |
Chirag Patel gene: TUBB4B was added gene: TUBB4B was added to Ciliary Dyskinesia. Sources: Other Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TUBB4B were set to Primary ciliary dyskinesia Review for gene: TUBB4B was set to GREEN Added comment: ESHG 2023: De novo heterozygous TUBB4B variants found in: -8 patients with recurrent respiratory infections (PCD phenotype), irregular corpus callosum, and dilated ventricles (suggesting motile cilia anomaly) -3 patients with retinal dystrophy, SNHL, and PCD respiratory issues Functional studies: -variants showed decreased cilia number and length, and mislocalisation of dyenin motors -mouse models had decreased cilia number and length in trachea, and reduction in cilia in choroid plexus cells leading to hydrocephaly Sources: Other |
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