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Epileptic encephalopathy

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

1 review

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
  • Expert Review Green
  • Other
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

19 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

HNRNPH2 was added to Epileptic encephalopathy panel. Sources: Other

19 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

HNRNPH2 was created by Louise Daugherty