Genomic imprinting
Gene: KHDC3L
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).Created: 21 Jan 2022, 9:31 a.m. | Last Modified: 21 Jan 2022, 9:31 a.m.
Panel Version: 0.135
Comment on phenotypes: IUGR;Failure to thrive;pregnancy loss Affected tissue: all (incompatible with life)Created: 21 Jan 2022, 9:24 a.m. | Last Modified: 21 Jan 2022, 9:24 a.m.
Panel Version: 0.135
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.Created: 2 Feb 2021, 5:32 p.m. | Last Modified: 2 Feb 2021, 5:32 p.m.
Panel Version: 0.84
Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).Created: 2 Feb 2021, 4:14 p.m. | Last Modified: 2 Feb 2021, 4:14 p.m.
Panel Version: 0.78
Publications
This is (c) gene whose mutation deranges imprinting in trans.Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life)
Publications
Publications for gene: KHDC3L were set to 21885028; 31847873; 31201414
Gene: khdc3l has been classified as Green List (High Evidence).
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
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)
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
Publications for gene: KHDC3L were set to 21885028; 31847873
Publications for gene: KHDC3L were set to PMID: 21885028
KHDC3L was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain
KHDC3L was created by ellenmcdonagh