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| Ciliopathies v0.79 | WDR81 | Zornitza Stark Marked gene: WDR81 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.79 | WDR81 | Zornitza Stark Gene: wdr81 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.79 | WDR81 | Zornitza Stark Classified gene: WDR81 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.79 | WDR81 | Zornitza Stark Gene: wdr81 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.78 | WDR81 |
Elena Savva gene: WDR81 was added gene: WDR81 was added to Ciliopathies. Sources: Expert list Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR81 were set to PMID: 28556411; 21885617 Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185; Hydrocephalus, congenital, 3, with brain anomalies 617967 Review for gene: WDR81 was set to RED Added comment: No mention of ciliary involvement in OMIM PMID: 28556411 - 2 families with congenital hydrocephalus, families were homozygous for a PTC and missense PMID: 21885617 - 1 super giant family with a homozygous missense. Authors describe the protein as transmembrane protein where the WD repeats support of beta propeller component. Mouse model also described, no mention of a Joubert-type phenotype Sources: Expert list |
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