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Intellectual disability

Gene: HNRNPH2

Green List (high evidence)

HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2)
EnsemblGeneIds (GRCh38): ENSG00000126945
EnsemblGeneIds (GRCh37): ENSG00000126945
OMIM: 300610, Gene2Phenotype
HNRNPH2 is in 5 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype for ID panel.
Created: 21 Dec 2017, 10:54 a.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Bain et al. (2016) PMID: 27545675 reported 5 unrelated female patients with the Bain type of X-linked syndromic mental retardation patients who were shown to manifest psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected. Bain et al. (2016) also noted that all mutations affected highly conserved residues in the nuclear localization sequence, and postulated a toxic gain-of-function effect, suggesting that these variants may be lethal in males.
Created: 18 Dec 2017, 3:36 p.m.

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
Mental retardation, X-linked, syndromic, Bain type, 300986; MRXSB

Publications

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
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, syndromic, Bain type, 300986
  • MRXSB
OMIM
300610
Clinvar variants
Variants in HNRNPH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to HNRNPH2.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

HNRNPH2 was added to Intellectual disability panel. Sources: Expert Review Green

4 Jan 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

HNRNPH2 was created by Sarah Leigh