| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.306 | WDR62 | Zornitza Stark Marked gene: WDR62 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.306 | WDR62 | Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.306 | WDR62 | Zornitza Stark Classified gene: WDR62 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.306 | WDR62 | Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.294 | WDR62 |
Clare van Eyk gene: WDR62 was added gene: WDR62 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR62 were set to PMID: 38693247 Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317 Review for gene: WDR62 was set to RED Added comment: 1 individual reported with biallelic pathogenic variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MCPH2 is associated with primary microcephaly with variable other neurodevelopmental features. Spastic quadriplegia, hemiplegia, hypertonia are reported. Sources: Literature |
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