Genomics England
GMS Panels
Panels
Genes and Entities

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1
OMIM: 601035
PanelMode of inheritanceDetails
2 panels
Green
in Childhood onset dystonia or chorea or related movement disorder
R-numbers: R57
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HNRNPH1-related neurodevelopmental disorder
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HNRNPH1‐related syndromic intellectual disability