Fetal anomalies
Gene: HNRNPH2

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>30 individuals reported thus far
mostly de novo variants, some reports of inheritance from mosaic mother.

low birth weight, length and microcephaly (mostly acquired as birth OFC not available) are some reported features

toxic GoF was first postulated but limited studies done on 3 missense showed mislocalisation, reduced interaction with partner proteins and substantial alterations in the regulation of alternative splicing along with global transcriptome changes
Created: 10 Jan 2022, 1:13 a.m. | Last Modified: 10 Jan 2022, 1:13 a.m.

Panel Version: 0.1933

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 MIM#300986

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 10 Jan 2022, 1:13 a.m.
Last Modified: 10 Jan 2022, 1:13 a.m.
Panel version: 0.1933

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
Genomics England PanelApp

Phenotypes

Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986

OMIM

300610

Clinvar variants

Variants in HNRNPH2

Penetrance

None

Publications

Panels with this gene