Genomic imprinting
Gene: KHDC3LEnsemblGeneIds (GRCh38): ENSG00000203908
EnsemblGeneIds (GRCh37): ENSG00000203908
OMIM: 611687, Gene2Phenotype
KHDC3L is in 2 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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
Ellen McDonagh (Genomics England Curator)
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
- PMID: 21885028
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Imprinting GeCIP Subdomain
- Phenotypes
-
- Hydatidiform mole, recurrent, 2 OMIM:614293
- hydatidiform mole, recurrent, 2 MONDO:0013671
- OMIM
- 611687
- Clinvar variants
- Variants in KHDC3L
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: KHDC3L were set to 21885028; 31847873; 31201414
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: khdc3l has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set Phenotypes
Sarah Leigh (Genomics England Curator)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)
Set mode of inheritance
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: KHDC3L were set to 21885028; 31847873
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: KHDC3L were set to PMID: 21885028
Added New Source
Ellen McDonagh (Genomics England Curator)KHDC3L was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain
Created
Ellen McDonagh (Genomics England Curator)KHDC3L was created by ellenmcdonagh