| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Chondrodysplasia Punctata v0.22 | C16orf62 | Zornitza Stark Marked gene: C16orf62 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chondrodysplasia Punctata v0.22 | C16orf62 | Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chondrodysplasia Punctata v0.22 | C16orf62 | Zornitza Stark Classified gene: C16orf62 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chondrodysplasia Punctata v0.22 | C16orf62 | Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chondrodysplasia Punctata v0.21 | C16orf62 |
Zornitza Stark gene: C16orf62 was added gene: C16orf62 was added to Chondrodysplasia Punctata. Sources: Expert list Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C16orf62 were set to 25434475; 31712251 Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Review for gene: C16orf62 was set to AMBER Added comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251). Chondrodysplasia punctata was a feature. Sources: Expert list |
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