KHDC3L

KH domain containing 3 like, subcortical maternal complex member
OMIM: 611687, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green KHDC3L in Genomic imprinting


Version 0.149

review 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
Red KHDC3L in Growth failure in early childhood


Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • IUGR
  • Failure to thrive
  • Hydatidiform mole, recurrent, 2 OMIM:614293
  • hydatidiform mole, recurrent, 2 MONDO:0013671
  • pregnancy loss
Tags
  • watchlist
Green KHDC3L in Multi locus imprinting disorders


Level 2: Endocrinology
Version 1.6
Latest signed off version: v1.2 (22 Mar 2023)

review 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