ISCA-37447-Loss

DLK1-MEG3 Intergenic Region Loss
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kagami-Ogata syndrome, OMIM:608149, Temple syndrome, OMIM:616222
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.26
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Kagami-Ogata syndrome, OMIM:608149, Temple syndrome, OMIM:616222