| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebellar and Pontocerebellar Hypoplasia v0.28 | WDR81 | Zornitza Stark Marked gene: WDR81 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.28 | WDR81 | Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.28 | WDR81 | Zornitza Stark Classified gene: WDR81 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.28 | WDR81 | Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.19 | WDR81 |
Crystle Lee gene: WDR81 was added gene: WDR81 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR81 were set to 25558065; 21885617 Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Review for gene: WDR81 was set to GREEN Added comment: Associated with cerebellar hypoplasia PMID: 25558065; Alazami 2015: 1 hom missense reported. Severe cerebellar hypoplasia noted as cause of death. No additional information. PMID: 21885617: Gulsuner 2011: Hom missense reported in a large consang family as the cause of cerebellar hypoplasia Komara 2016: 2 sibs in consang fam. Sources: Expert Review |
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