Cytopenias and congenital anaemias
Gene: HBG2Comment when marking as ready: Marked as red as the phenotype is not relevantCreated: 10 Mar 2017, 6:10 p.m.
Comment on list classification: Needs further discussion with clinical teamCreated: 2 Mar 2017, 2:51 p.m.
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
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
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).
Phenotypes for HBG2 were set to Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1,141749
This gene has been classified as Amber List (Moderate Evidence).
HBG2 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
HBG2 was created by LouiseD