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DDG2P

Gene: HNRNPH2

Green List (high evidence)
HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2)
EnsemblGeneIds (GRCh38): ENSG00000126945
EnsemblGeneIds (GRCh37): ENSG00000126945
OMIM: 300610, Gene2Phenotype
HNRNPH2 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for HNRNPH2-related neurodevelopmental disorder are strong, monoallelic_X_heterozygous and undetermined (PMID:27545675). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01875.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Neurodevelopmental Disorder in Females is strong. The allelic requirement and mutation consequence are monoallelic_X_het and altered gene product structure (PMID:27545675).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
HNRNPH2-related neurodevelopmental disorder; Neurodevelopmental Disorder in Females; OMIM:300986.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental Disorder in Females
OMIM
300610
Clinvar variants
Variants in HNRNPH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: HNRNPH2 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to HNRNPH2. Mode of pathogenicity for gene HNRNPH2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: HNRNPH2 was added gene: HNRNPH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HNRNPH2 were set to 27545675 Phenotypes for gene: HNRNPH2 were set to Neurodevelopmental Disorder in Females Mode of pathogenicity for gene: HNRNPH2 was set to Other - please provide details in the comments