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Growth failure in early childhood

Gene: KHDC3L

Red List (low evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

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, 4:13 p.m. | Last Modified: 2 Feb 2021, 4:13 p.m.
Panel Version: 1.54

Karen Temple (Wessex GMC)

Red List (low evidence)

This is another maternal affect gene that predisposes to multi locus imprinting disturbance and can likely cause a phenoytpe in the Silver Russell spectrum. Findings of mutations in the mother would lead to methylation testing in the offspring/ proband/ products of cenception. Although there are not many examples of SRS being caused by this gene it is likely that it will be a cause given that it causes recurrent hydatidiform mole (which is a severe form of MLID testing)
Sources: Expert list
Created: 29 Jan 2021, 11:36 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
IUGR; Failure to thrive; hydatidiform mole; pregnancy loss

Publications

  • Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190
  • PMC6047157

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • IUGR
  • Failure to thrive
  • Hydatidiform mole, recurrent, 2 OMIM:614293
  • hydatidiform mole, recurrent, 2 MONDO:0013671
  • pregnancy loss
Tags
watchlist
OMIM
611687
Clinvar variants
Variants in KHDC3L
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Feb 2021, Gel status: 1

Removed Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: KHDC3L. Tag watchlist tag was added to gene: KHDC3L.

2 Feb 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: KHDC3L were changed from IUGR; Failure to thrive; hydatidiform mole; pregnancy loss to IUGR; Failure to thrive; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; pregnancy loss

2 Feb 2021, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: KHDC3L was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

1 Feb 2021, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: KHDC3L was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

1 Feb 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: KHDC3L were set to Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190; PMC6047157

1 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: khdc3l has been classified as Red List (Low Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: KHDC3L.

29 Jan 2021, Gel status: 0

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

Karen Temple (Wessex GMC)

gene: KHDC3L was added gene: KHDC3L was added to Growth failure in early childhood. Sources: Expert list 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 Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190; PMC6047157 Phenotypes for gene: KHDC3L were set to IUGR; Failure to thrive; hydatidiform mole; pregnancy loss Penetrance for gene: KHDC3L were set to unknown Review for gene: KHDC3L was set to RED