Fetal anomalies
Gene: HNRNPH2

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.

Panel Version: 4.192

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.

Panel Version: 4.36

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

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

Green in several panels including severe Paediatric; Well-characterised disorder Gene Reviews https://www.ncbi.nlm.nih.gov/books/NBK584018/ - Most individuals with HNRNPH2-related neurodevelopmental disorder (HNRNPH2-NDD) have symptoms early in life, before age 12 months. The major features of HNRNPH2-NDD are developmental delay / intellectual disability, motor and language delays, behavioral and psychiatric disorders, and growth and musculoskeletal abnormalities. Minor features include dysmorphic facies, gastrointestinal disturbances, epilepsy, and visual defects. From Australian panel review: PMIDs 34907471;33728377;31670473;31236915;30887513. Although not routinely diagnosed prenatally there are fetaures which might be detectable by US scan - scoliosis, cerebellar atrophy, micrognathia. Green.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.

Panel Version: 4.35

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
Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Neurodevelopmental Disorder in Females
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

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
NHS GMS
PAGE DD-Gene2Phenotype

Phenotypes

Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986

OMIM

300610

Clinvar variants

Variants in HNRNPH2

Penetrance

None

Publications

Panels with this gene