1. Panels
  2. Fetal anomalies
  3. HIST1H1E
Genes in panel
Prev Next

Fetal anomalies

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 5 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 1:06 p.m. | Last Modified: 1 Feb 2021, 1:06 p.m.
Panel Version: 1.427
Created: 1 Feb 2021, 1:06 p.m.
Last Modified: 1 Feb 2021, 1:06 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): BWS and overgrowth syndromes
Created: 28 Jan 2021, 6:21 p.m. | Last Modified: 28 Jan 2021, 6:21 p.m.
Panel Version: 1.214

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

Phenotypes
Rahman syndrome

Created: 28 Jan 2021, 6:21 p.m.
Last Modified: 28 Jan 2021, 6:21 p.m.
Panel version: 1.214

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: 0.339
Created: 6 Sep 2019, 3:17 p.m.
Last Modified: 6 Sep 2019, 3:17 p.m.
Panel version: 0.339

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Childhood overgrowth
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Rahman syndrome, OMIM:617537
  • Rahman syndrome, MONDO:0044323
Tags
new-gene-name
OMIM
142220
Clinvar variants
Variants in HIST1H1E
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: HIST1H1E.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to HIST1H1E. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HIST1H1E were changed from Childhood overgrowth to Rahman syndrome, OMIM:617537; Rahman syndrome, MONDO:0044323

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hist1h1e has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: HIST1H1E.

6 Sep 2019, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

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

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: HIST1H1E was added gene: HIST1H1E was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H1E were set to Childhood overgrowth