Genomics England
GMS Panels
Panels
Genes and Entities

HNRNPH2

heterogeneous nuclear ribonucleoprotein H2
OMIM: 300610
PanelMode of inheritanceDetails
2 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked, syndromic, Bain type, 300986, MRXSB
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked, syndromic, Bain type, 300986, MRXSB