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Genetic epilepsy syndromes

Gene: HNRNPH2

Green List (high evidence)

HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2)
EnsemblGeneIds (GRCh38): ENSG00000126945
EnsemblGeneIds (GRCh37): ENSG00000126945
OMIM: 300610, Gene2Phenotype
HNRNPH2 is in 6 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

The failure to identify affected males, the severity of the neurodevelopmental phenotype in females, and the essential role of this gene suggests that male conceptuses with these variants may not be viable
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

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

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: changed from red to green due to evidence in the literature
Created: 19 Dec 2017, 12:14 p.m.
Added from Intellectual disability panel update as gene is also relevant to this panel
Created: 19 Dec 2017, 12:11 p.m.
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: 19 Dec 2017, 12:11 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Other
  • 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

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HNRNPH2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HNRNPH2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Louise Daugherty: Bain et al. (2016) PMID: 27545

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

HNRNPH2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Other

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

HNRNPH2 was created by Sarah Leigh