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Sickle cell, thalassaemia and other haemoglobinopathies

Gene: HBG1

Green List (high evidence)
HBG1 (hemoglobin subunit gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000213934
EnsemblGeneIds (GRCh37): ENSG00000213934
OMIM: 142200, Gene2Phenotype
HBG1 is in 4 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with MIM #141749 in OMIM and the OMIM record was last accessed on 20 December 2025.
Created: 20 Dec 2025, 5:55 p.m. | Last Modified: 20 Dec 2025, 5:55 p.m.
Panel Version: 2.7
Created: 20 Dec 2025, 5:55 p.m.
Last Modified: 20 Dec 2025, 5:55 p.m.
Panel version: 2.7

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 8:25 p.m. | Last Modified: 3 May 2024, 8:25 p.m.
Panel Version: 1.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 3 May 2024, 8:25 p.m.
Last Modified: 3 May 2024, 8:25 p.m.
Panel version: 1.9

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel at the request of the NHSE specialist group. There is sufficient evidence to promote this gene to Green at the next GMS panel update.

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Copied review below from Arianna Tucci (UCL) on Cytopenias and congenital anaemias (159) panel:

"delta beta thalassemia can result from deletions within or encompassing the beta-globin gene cluster (see HBB, 141900) on chromosome 11p15, including deletions that also encompass the delta-globin gene (142000), or from point mutations in the promoter regions of either the HBG1 (142200) or the HBG2 (142250) gene"
Sources: NHS GMS
Created: 5 Jan 2024, 3:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 5 Jan 2024, 3:33 p.m.

Panel version: 1.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fetal hemoglobin quantitative trait locus 1, OMIM:141749
OMIM
142200
Clinvar variants
Variants in HBG1
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HBG1 were changed from to Fetal hemoglobin quantitative trait locus 1, OMIM:141749

3 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: HBG1.

3 May 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to HBG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hbg1 has been classified as Amber List (Moderate Evidence).

5 Jan 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: HBG1 was added gene: HBG1 was added to Thalassaemia and other haemoglobinopathies. Sources: NHS GMS Q4_23_promote_green tags were added to gene: HBG1. Mode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: HBG1 was set to GREEN