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Intellectual disability

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 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for HIST1H1E is H1-4
Created: 6 Sep 2019, 3:17 p.m. | Last Modified: 6 Sep 2019, 3:17 p.m.
Panel Version: 2.1022

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Monoallelic MOI supported by PMID:28475857 and OMIM.
Created: 18 Sep 2017, 7:51 a.m.
Comment on list classification: Updated rating from Red to Green after clinical agreement from Helen Brittain: although the ID phenotype is variable, it is present across the (>3 unrelated) reported cases.
Created: 18 Sep 2017, 7:50 a.m.
Tatton-Brown et al (2017, PMID:28475857) reported 5 unrelated patients with mild to severe ID associated with variable somatic overgrowth, including increased height, weight, and/or head circumference. The authors reported 3 heterozygous truncating variants in HIST1H1E. The variants occured de novo in 4 families- parental DNA wasn't available from the 5th family.
Created: 18 Sep 2017, 7:48 a.m.
Rahman syndrome (MIM:617537) is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference.
Created: 18 Sep 2017, 7:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Rahman syndrome, 617537; mild to severe intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Other
Phenotypes
  • Rahman syndrome, 617537
  • mild to severe intellectual disability
Tags
new-gene-name
OMIM
142220
Clinvar variants
Variants in HIST1H1E
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: HIST1H1E.

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to HIST1H1E.

12 Mar 2018, Gel status: 3

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.

18 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

18 Sep 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for HIST1H1E was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

18 Sep 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

HIST1H1E was added to Intellectual disabilitypanel. Sources: Other

18 Sep 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

HIST1H1E was created by rfoulger