Cytopenias and congenital anaemias
Gene: HBG1

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

3 reviews

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Marked as red as the phenotype is not relevant
Created: 10 Mar 2017, 6:08 p.m.

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
Created: 10 Mar 2017, 4:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
delta beta thalassemia, 141749

Mode of pathogenicity
Other

Created: 10 Mar 2017, 6:07 p.m.

Panel version: 0.543

Louise Daugherty (Genomics England Curator)

Comment on list classification: Needs further discussion with clinical team as this may be on secondary findings list
Created: 2 Mar 2017, 2:49 p.m.

Comment on mode of inheritance: Evidence in literature suggests monoallelic inheritance
Created: 1 Mar 2017, 2:13 p.m.

Created: 1 Mar 2017, 2:13 p.m.

Panel version: 0.249

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Globin Disorder

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

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
UKGTN
BRIDGE consortium (NIHRBR-RD)

Phenotypes

Fetal hemoglobin quantitative trait locus 1, OMIM:141749
Hereditary persistance of fetal haemoglobin
Globin Disorder

OMIM

142200

Clinvar variants

Variants in HBG1

Penetrance

Complete

Panels with this gene

History Filter Activity

5 Jan 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HBG1 were changed from Globin Disorder; Fetal hemoglobin quantitative trait locus 1, 141749 to Fetal hemoglobin quantitative trait locus 1, OMIM:141749; Hereditary persistance of fetal haemoglobin; Globin Disorder

11 Mar 2017, Gel status: 1