Haemoglobinopathy trait or carrier testing
Gene: HBG1
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 3 May 2024, 8:16 p.m. | Last Modified: 3 May 2024, 8:16 p.m.
Panel Version: 1.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been added to the panel at the request of the NHSE specialist group. There is sufficient evidence to promote this gene to Green at the next GMS panel update.
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Copied review below from Arianna Tucci (UCL) on Cytopenias and congenital anaemias (159) panel:
"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) gene"
Sources: NHS GMSCreated: 5 Jan 2024, 3:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q4_23_promote_green was removed from gene: HBG1.
Source Expert Review Green was added to HBG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: hbg1 has been classified as Amber List (Moderate Evidence).
gene: HBG1 was added gene: HBG1 was added to Haemoglobinopathy trait or carrier testing. Sources: NHS GMS Q4_23_promote_green tags were added to gene: HBG1. Mode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: HBG1 was set to GREEN