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

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 2 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.

Louise Daugherty (Genomics England Curator)

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Globin Disorder
  • Cyanosis, transient neonatal, 613977
  • Fetal hemoglobin quantitative trait locus 1,141749
OMIM
142250
Clinvar variants
Variants in HBG2
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).

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