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Chondrodysplasia punctata v1.4 C16orf62 Sarah Leigh Classified gene: C16orf62 as Amber List (moderate evidence)
Chondrodysplasia punctata v1.4 C16orf62 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. 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 31712251).
Chondrodysplasia punctata v1.4 C16orf62 Sarah Leigh Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Chondrodysplasia punctata v1.3 C16orf62 Sarah Leigh gene: C16orf62 was added
gene: C16orf62 was added to Chondrodysplasia punctata. Sources: Literature
new-gene-name tags were added to gene: C16orf62.
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 31712251
Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome
Review for gene: C16orf62 was set to AMBER
Added comment: The HGNC approved name for this gene is: VPS35 endosomal protein sorting factor like (VPS35L)
Sources: Literature
Chondrodysplasia punctata v1.2 ARSE Louise Daugherty Deleted their comment
Chondrodysplasia punctata v1.2 ARSE Louise Daugherty commented on gene: ARSE: Added new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSL
Chondrodysplasia punctata v1.2 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Chondrodysplasia punctata v1.2 ARSE Louise Daugherty commented on gene: ARSE