| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2580 | WDR48 | Zornitza Stark Marked gene: WDR48 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2580 | WDR48 | Zornitza Stark Gene: wdr48 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2580 | WDR48 | Zornitza Stark Classified gene: WDR48 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2580 | WDR48 | Zornitza Stark Gene: wdr48 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2562 | WDR48 |
Sangavi Sivagnanasundram gene: WDR48 was added gene: WDR48 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR48 were set to 24482476 Phenotypes for gene: WDR48 were set to Hereditary spastic paraplegia MONDO:0015150 Review for gene: WDR48 was set to RED Added comment: Gene Reviews - https://www.ncbi.nlm.nih.gov/books/NBK1509/ SPG60 - paediatric onset of complex HSP. Polyneuropathy and DD are the typical onset of symptoms No new reported probands - review copied from HSP paediatric panel: "A single family reported with a homozygous in-frame deletion." Sources: Expert Review |
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