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Multi locus imprinting disorders

Gene: KHDC3L

Green List (high evidence)
KHDC3L (KH domain containing 3 like, subcortical maternal complex member)
EnsemblGeneIds (GRCh38): ENSG00000203908
EnsemblGeneIds (GRCh37): ENSG00000203908
OMIM: 611687, Gene2Phenotype
KHDC3L is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 2 Feb 2021, 4:14 p.m.
Last Modified: 2 Feb 2021, 4:14 p.m.
Copied from panel: Genomic imprinting v0.138

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

Created: 4 May 2017, 2:37 p.m.

Copied from panel: Genomic imprinting v0.138

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

17 Feb 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Sarah Leigh (Genomics England Curator)

gene: KHDC3L was added gene: KHDC3L was added to Multi locus imprinting disorders. Sources: Imprinting GeCIP Subdomain,Expert Review Green Mode of inheritance for gene: KHDC3L was set 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; 23232697; 31847873; 31201414 Phenotypes for gene: KHDC3L were set to Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671 Penetrance for gene: KHDC3L were set to Complete