| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.94 | WDR4 | chirag patel Classified gene: WDR4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.94 | WDR4 | chirag patel Gene: wdr4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.93 | WDR4 | chirag patel Marked gene: WDR4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.93 | WDR4 | chirag patel Gene: wdr4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.93 | WDR4 |
chirag patel gene: WDR4 was added gene: WDR4 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR4 were set to 28617965; 26429597; 26416026 Phenotypes for gene: WDR4 were set to Microcephaly, growth deficiency, seizures, and brain malformations, MONDO:0032690 Review for gene: WDR4 was set to GREEN Added comment: 6 individuals from 5 families with biallelic WDR4 variants causing microcephalic primordial dwarfism characterised by severe growth deficiency, microcephaly, brain malformations, seizures and facial dysmorphism. Skeletal features include: unossified pubic bones, short long bones, and broad metaphyses. Patient lymphoblastoid cells show reduced tRNA m7G46 methylation. Yeast models with orthologous WDR4 mutations display temperature‑sensitive growth defects. Sources: Literature |
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