Summary Statistics:
Gene Score: 4
Relevance to Autism
A rare, non-synonymous SNP in the HNRNPH2 gene was first identified in an individual with autism in Piton et al., 2011. Six unrelated females with a common neurodevelopmental phenotype involving developmental delay/intellectual disability were found to have de novo predicted deleterious missense variants in the HNRNPH2 gene; three of these six female patients were diagnosed with ASD (Bain et al., 2016).
Molecular Function
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs.
References
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Mental retardation, X-linked, syndromic, Bain type
Support
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability
DD, ID
Support
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
ASD, DD, epilepsy/seizures
Support
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
DD/ID, Mental retardation, X-linked, syndromic, Ba
ASD, ADHD, epilepsy/seizures
Support
Epilepsy/seizures
Support
Bain type of X-linked syndromic mental retardation in boys
Mental retardation, X-linked, syndromic, Bain type
DD
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD, ID, Afs
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
DD, ID
ASD or autistic behavior, stereotypy, epilepsy/sei
Support
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype
Mental retardation, X-linked, syndromic, Bain type
DD, ID, stereotypy
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2
Mental retardation, X-linked, syndromic, Bain type
DD, ID, epilepsy/seizures, stereotypy
Support
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
NDD
DD, epilepsy/seizures
Highly Cited
Heterogeneous nuclear ribonucleoproteins H, H', and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by...
Recent Recommendation
A UV-responsive internal ribosome entry site enhances serine hydroxymethyltransferase 1 expression for DNA damage repair.
Recent Recommendation
Intellectual developmental disorder, X-linked synd
Recent Recommendation
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
DD, ID
ASD, epilepsy/seizures, ADHD
GEN121R001
missense_variant
c.1188G>C
p.Met396Ile
Familial
Maternal
GEN121R002
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R003
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R004
missense_variant
c.617G>A
p.Arg206Gln
De novo
GEN121R005
missense_variant
c.626C>T
p.Pro209Leu
De novo
GEN121R006
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R007
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R008
missense_variant
c.422T>A
p.Met141Lys
De novo
Simplex
GEN121R009
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R010
missense_variant
c.340C>T
p.Arg114Trp
De novo
GEN121R011
missense_variant
c.85C>T
p.Arg29Cys
De novo
Unknown
GEN121R012
missense_variant
c.340C>T
p.Arg114Trp
De novo
GEN121R013
missense_variant
c.340C>T
p.Arg114Trp
De novo
GEN121R014
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R015
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R016
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R017
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R018
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R019
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R020
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R021
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R022
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R023
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R024
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R025
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R026
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R027
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R028
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R029
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R030
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R031
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R032
missense_variant
c.616C>G
p.Arg206Gly
De novo
GEN121R033
missense_variant
c.617G>A
p.Arg206Gln
De novo
GEN121R034
missense_variant
c.617G>A
p.Arg206Gln
De novo
GEN121R035
missense_variant
c.617G>A
p.Arg206Gln
De novo
GEN121R036
missense_variant
c.617G>A
p.Arg206Gln
De novo
GEN121R037
missense_variant
c.617G>A
p.Arg206Gln
De novo
GEN121R038
missense_variant
c.617G>T
p.Arg206Leu
De novo
GEN121R039
missense_variant
c.626C>T
p.Pro209Leu
De novo
GEN121R040
missense_variant
c.629A>G
p.Tyr210Cys
De novo
GEN121R041
missense_variant
c.634A>G
p.Arg212Gly
De novo
GEN121R042
missense_variant
c.635G>C
p.Arg212Thr
De novo
GEN121R043
missense_variant
c.638C>T
p.Pro213Leu
De novo
GEN121R044
missense_variant
c.1019A>T
p.Asp340Val
De novo
GEN121R045
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R046
missense_variant
c.617G>A
p.Ala206Gln
De novo
GEN121R047
missense_variant
c.617G>A
p.Arg206Gln
Unknown
GEN121R048
missense_variant
c.616C>T
p.Ala206Trp
De novo (germline mosaicism)
Multiplex
GEN121R049
missense_variant
c.617G>T
p.Arg206Leu
De novo
Simplex
GEN121R050
missense_variant
c.422T>A
p.Met141Lys
De novo
GEN121R051
missense_variant
c.616C>T
p.Ala206Trp
De novo
GEN121R052
missense_variant
c.616C>T
p.Ala206Trp
De novo
GEN121R053
missense_variant
c.616C>T
p.Ala206Trp
De novo
GEN121R054
missense_variant
c.616C>T
p.Ala206Trp
De novo
GEN121R055
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R056
missense_variant
c.616C>T
p.Arg206Trp
De novo
GEN121R057
missense_variant
c.617G>A
p.Arg206Gln
De novo
GEN121R058
missense_variant
c.635G>C
p.Arg212Thr
De novo
GEN121R059
missense_variant
c.629A>G
p.Tyr210Cys
Unknown
GEN121R060
missense_variant
c.629A>G
p.Tyr210Cys
De novo
GEN121R061
missense_variant
c.583T>C
p.Tyr195His
Unknown
GEN121R062
missense_variant
c.85C>T
p.Arg29Cys
De novo
Simplex
GEN121R063
missense_variant
c.340C>T
p.Arg114Trp
De novo
Simplex
GEN121R064
missense_variant
c.340C>T
p.Arg114Trp
De novo
Simplex
GEN121R065
stop_gained
c.595C>T
p.Arg199Ter
Unknown
GEN121R066
frameshift_variant
c.918_919dup
p.Asn307IlefsTer10
Familial
Maternal
GEN121R067
frameshift_variant
c.1110dup
p.Ala371CysfsTer24
Familial
Maternal
GEN121R068
stop_gained
c.562C>T
p.Arg188Ter
De novo
Multiplex (monozygotic twins)
GEN121R069
missense_variant
c.616C>T
p.Arg206Trp
De novo
Simplex
GEN121R070
missense_variant
c.629A>G
p.Tyr210Cys
De novo
No Common Variants Available
X
Deletion-Duplication
21
No Interactions Available
