Ocular colobomaGene: C16orf62
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).
Created: 8 Jun 2020, 11:17 a.m. | Last Modified: 8 Jun 2020, 11:17 a.m.
Panel Version: 1.36
The HGNC approved name for this gene is: VPS35 endosomal protein sorting factor like (VPS35L)
Created: 8 Jun 2020, 11:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
gene: C16orf62 was added gene: C16orf62 was added to Ocular coloboma. 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