Genomics England
GMS Panels
Panels
Genes and Entities

JARID2

jumonji and AT-rich interaction domain containing 2
OMIM: 601594
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
JARID2-related Neurodevelopmental Disorder
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability, Neurodevelopmental syndrome, Developmental delay with variable intellectual disability and dysmorphic facies, OMIM:620098