Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cytopenias and congenital anaemias

Gene: HBG1

Red List (low evidence)

HBG1 (hemoglobin subunit gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000213934
EnsemblGeneIds (GRCh37): ENSG00000213934
OMIM: 142200, Gene2Phenotype
HBG1 is in 2 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.
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

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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Globin Disorder
  • Fetal hemoglobin quantitative trait locus 1, 141749
OMIM
142200
Clinvar variants
Variants in HBG1
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

10 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

10 Mar 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for HBG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

2 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Mar 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for HBG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Mar 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for HBG1 were set to Globin Disorder;Fetal hemoglobin quantitative trait locus 1, 141749

1 Mar 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for HBG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Mar 2017, Gel status: 1

Upload gene information

Louise Daugherty (Genomics England Curator)

HBG1 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

HBG1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

HBG1 was created by LouiseD