| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Imprinting disorders v0.15 | KHDC3L | Zornitza Stark Marked gene: KHDC3L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.15 | KHDC3L | Zornitza Stark Gene: khdc3l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.15 | KHDC3L | Zornitza Stark Phenotypes for gene: KHDC3L were changed from Hydatiform mold recurrent 2 MIM#614293 to Hydatiform mole recurrent 2 MIM#614293 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.14 | KHDC3L | Zornitza Stark Classified gene: KHDC3L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.14 | KHDC3L | Zornitza Stark Gene: khdc3l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.13 | KHDC3L |
Anna Le Fevre gene: KHDC3L was added gene: KHDC3L was added to Imprinting disorders. Sources: Literature Mode of inheritance for gene: KHDC3L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KHDC3L were set to 23232697; 31847873; 23125094; 21885028 Phenotypes for gene: KHDC3L were set to Hydatiform mold recurrent 2 MIM#614293 Penetrance for gene: KHDC3L were set to unknown Review for gene: KHDC3L was set to GREEN Added comment: Biallelic pathogenic variants in the gene have been associated with Biparental complete hydatifom mole (BiCHM) in multiple individuals. There is one report of an individual with recurrent hydatiform mole and biallelic variants in this gene who experienced a single digynic triploid pregnancy presenting as a CHM, whereas other pregnancies were BiCHM (23125094). Most reported individuals have been found to carry biallelic pathogenic variants in this gene. A minority have been found to carry a heterozygous variant only. A relationship between zygosity and severity of the condition has not been definitively established. As is the case for other genes encoding components of the subcortical maternal complex (SCMC), the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history. Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo. Sources: Literature |
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