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  3. HBG2
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Cytopenias and congenital anaemias

Gene: HBG2

Red List (low evidence)
HBG2 (hemoglobin subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000196565
EnsemblGeneIds (GRCh37): ENSG00000196565
OMIM: 142250, Gene2Phenotype
HBG2 is in 4 panels

3 reviews

Arianna Tucci (Genomics England Curator)

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

Panel version: 0.544

Louise Daugherty (Genomics England Curator)

Comment on list classification: Needs further discussion with clinical team
Created: 2 Mar 2017, 2:51 p.m.
Created: 2 Mar 2017, 2:51 p.m.

Panel version: 0.308

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

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, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Fetal hemoglobin quantitative trait locus 1, OMIM:141749
  • Cyanosis, transient neonatal, OMIM:613977
  • Globin Disorder
OMIM
142250
Clinvar variants
Variants in HBG2
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: HBG2 were changed from Globin Disorder; Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1,141749 to Fetal hemoglobin quantitative trait locus 1, OMIM:141749; Cyanosis, transient neonatal, OMIM:613977; Globin Disorder

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).

2 Mar 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for HBG2 were set to Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1,141749

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).

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

HBG2 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

HBG2 was created by LouiseD