Rare anaemia

Gene: HBE1

Red List (low evidence)

HBE1 (hemoglobin subunit epsilon 1)
EnsemblGeneIds (GRCh38): ENSG00000213931
EnsemblGeneIds (GRCh37): ENSG00000213931
OMIM: 142100, Gene2Phenotype
HBE1 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
Created: 22 Jul 2019, 3:33 p.m. | Last Modified: 22 Jul 2019, 3:33 p.m.
Panel Version: 0.53
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBE1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Epsilon-gamma-delta-beta thalassaemia; PMID(s): 17712794
Created: 8 Feb 2019, 3:49 p.m.

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 3:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epsilon-gamma-delta-beta thalassaemia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • Epsilon-gamma-delta-beta thalassaemia
OMIM
142100
Clinvar variants
Variants in HBE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: hbe1 has been classified as Red List (Low Evidence).

8 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to HBE1. Mode of inheritance for gene HBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Epsilon-gamma-delta-beta thalassaemia for gene: HBE1 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Feb 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Epsilon-gamma-delta-beta thalassaemia for gene: HBE1 Publications for gene HBE1 were changed from to 17712794

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HBE1.

8 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: HBE1 was added gene: HBE1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: HBE1 was set to