Cytopenias and congenital anaemias
Gene: HBG1
Comment when marking as ready: Marked as red as the phenotype is not relevantCreated: 10 Mar 2017, 6:08 p.m.
Comment when marking as ready: Marked as red as the phenotype is not relevantCreated: 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) geneCreated: 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
Comment on list classification: Needs further discussion with clinical team as this may be on secondary findings listCreated: 2 Mar 2017, 2:49 p.m.
Comment on mode of inheritance: Evidence in literature suggests monoallelic inheritanceCreated: 1 Mar 2017, 2:13 p.m.
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
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
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for HBG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for HBG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for HBG1 were set to Globin Disorder;Fetal hemoglobin quantitative trait locus 1, 141749
Mode of inheritance for HBG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
HBG1 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
HBG1 was created by LouiseD
HBG1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)