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Severe Paediatric Disorders

Gene: HIST1H1E

Green List (high evidence)

HIST1H1E (histone cluster 1 H1 family member e)
EnsemblGeneIds (GRCh38): ENSG00000168298
EnsemblGeneIds (GRCh37): ENSG00000168298
OMIM: 142220, Gene2Phenotype
HIST1H1E is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: H1-4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Rahman syndrome, 617537 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for HIST1H1E is H1-4 (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:17 a.m. | Last Modified: 17 Feb 2020, 10:17 a.m.
Panel Version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Rahman syndrome, 617537
Tags
new-gene-name
OMIM
142220
Clinvar variants
Variants in HIST1H1E
Penetrance
None
Publications
Panels with this gene

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