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  3. KHDC3L
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Growth failure

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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variants in the mother predispose to multi locus imprinting disturbance.
Created: 30 Aug 2021, 1:54 a.m. | Last Modified: 30 Aug 2021, 1:54 a.m.
Panel Version: 0.342

Mode of inheritance
Other

Phenotypes
Silver-Russell syndrome

Publications

Created: 30 Aug 2021, 1:54 a.m.
Last Modified: 30 Aug 2021, 1:54 a.m.
Panel version: 0.342

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Silver-Russell syndrome
OMIM
611687
Clinvar variants
Variants in KHDC3L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Aug 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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 Other

19 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KHDC3L was added gene: KHDC3L was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red 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 29574422 Phenotypes for gene: KHDC3L were set to pregnancy loss; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; Failure to thrive; IUGR