Sarah Leigh edited their review of gene: KHDC3L: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least four variants have been reported in at least five cases of Hydatidiform mole, recurrent, 2 (OMIM;614293)(PMID: 21885028;23232697).; Changed rating: GREEN; Changed publications to: 21885028, 23232697
Sarah Leigh Phenotypes for gene: KHDC3L were changed from IUGR; Failure to thrive; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; pregnancy loss Affected tissue: all (incompatible with life) to Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671
Sarah Leigh commented on gene: KHDC3L: Comments from Prof Ian Morison (Department of Pathology, University of Otago) KHDC3L is a component of the subcortical maternal complex. Required for the establishment of imprinting, but not imprinted itself.
Sarah Leigh Phenotypes for gene: KHDC3L were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life) to IUGR; Failure to thrive; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; pregnancy loss Affected tissue: all (incompatible with life)
Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Sarah Leigh Mode of inheritance for gene: KHDC3L was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal