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Red cell disorders

Gene: HBG1

Green List (high evidence)
HBG1 (hemoglobin subunit gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000213934
EnsemblGeneIds (GRCh37): ENSG00000213934
OMIM: 142200, Gene2Phenotype
HBG1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or haematologic manifestations.
Created: 18 Sep 2021, 12:08 a.m. | Last Modified: 18 Sep 2021, 12:08 a.m.
Panel Version: 0.218

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fetal haemoglobin quantitative trait locus 1 141749

Created: 18 Sep 2021, 12:08 a.m.
Last Modified: 18 Sep 2021, 12:08 a.m.
Panel version: 0.218

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Fetal haemoglobin quantitative trait locus 1, 141749
OMIM
142200
Clinvar variants
Variants in HBG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hbg1 has been classified as Green List (High Evidence).

18 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 141749 Globin Disorder; Globin Disorder; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1, 141749 for gene: HBG1

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HBG1 was added gene: HBG1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HBG1 were set to 26500940 Phenotypes for gene: HBG1 were set to 141749 Hereditary persistance of fetal haemoglobin; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1; Globin Disorder; Fetal hemoglobin quantitative trait locus 1, 141749