Human Gene Module / Chromosome X / HNRNPH2

HNRNPH2heterogeneous nuclear ribonucleoprotein H2 (H')

Score
4
Minimal Evidence Criteria 4.1
Autism Reports / Total Reports
1 / 4
Rare Variants / Common Variants
7 / 0
Aliases
HNRNPH2, FTP3,  HNRPH',  HNRPH2,  hnRNPH'
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
Xq22.1
Associated Disorders
ADHD, ASD, EPS, SCZ
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.

Reports related to HNRNPH2 (4 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Recent Recommendation A UV-responsive internal ribosome entry site enhances serine hydroxymethyltransferase 1 expression for DNA damage repair. Fox JT , et al. (2009) No -
2 Primary Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Piton A , et al. (2010) Yes SCZ
3 Recent recommendation Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Bain JM , et al. (2016) No ASD (3/6 cases), epilepsy/seizures (3/6 cases), AD
4 Highly Cited Heterogeneous nuclear ribonucleoproteins H, H', and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by... Honor B , et al. (1995) No -
Rare Variants   (7)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
G to C p.Met396Ile missense_variant Familial Maternal - 20479760 Piton A , et al. (2010)
c.616C>T p.Arg206Trp missense_variant De novo - - 27545675 Bain JM , et al. (2016)
c.616C>T p.Arg206Trp missense_variant De novo - - 27545675 Bain JM , et al. (2016)
c.617G>A p.Arg206Gln missense_variant De novo - - 27545675 Bain JM , et al. (2016)
c.626C>T p.Pro209Leu missense_variant De novo - - 27545675 Bain JM , et al. (2016)
c.616C>T p.Arg206Trp missense_variant De novo - - 27545675 Bain JM , et al. (2016)
c.616C>T p.Arg206Trp missense_variant De novo - - 27545675 Bain JM , et al. (2016)
Common Variants  

No common variants reported.

SFARI Gene score
4

Minimal Evidence

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).

4

Minimal Evidence

See all Category 4 Genes

The literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as 'acc" in the score cards) could also boost a gene from category 4 to 3.

04-01-2017
4

Initial score established: 4

Description

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).

CNVs associated with HNRNPH2(1 CNVs)
Xq22.1 4 Duplication 8  /  15
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