Genomics England
GMS Panels
Panels
Genes and Entities

KHDC3L

KH domain containing 3 like, subcortical maternal complex member
OMIM: 611687
PanelMode of inheritanceDetails
1 panel
Green
in Multi Locus Imprinting Disorder (MLID)
R-numbers: R417.2
Signed-off version 2.4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hydatidiform mole, recurrent, 2 OMIM:614293, hydatidiform mole, recurrent, 2 MONDO:0013671