Genomics England
GMS Panels
Panels
Genes and Entities

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1
OMIM: 601035
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HNRNPH1-related neurodevelopmental disorder, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HNRNPH1-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
HNRNPH1‐related syndromic intellectual disability, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083