Rare anaemia
Gene: HSCBComment on list classification: New gene added by Zornitza Stark (Australian Genomics). Rating Amber, awaiting further cases - single individual reported to date (PMID:32634119) but with strong functional support, including in vitro and animal studies (zebrafish and mouse)Created: 13 Oct 2021, 9:36 a.m. | Last Modified: 13 Oct 2021, 9:36 a.m.
Panel Version: 1.29
Single individual reported with compound heterozygous variants in this gene. Good functional data including animal model.
Sources: LiteratureCreated: 11 Oct 2021, 7:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anaemia, sideroblastic, 5 619523
Publications
Tag watchlist tag was added to gene: HSCB.
Gene: hscb has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: HSCB were changed from Anaemia, sideroblastic, 5 619523 to ?Anemia, sideroblastic, 5, OMIM:619523
gene: HSCB was added gene: HSCB was added to Rare anaemia. Sources: Literature Mode of inheritance for gene: HSCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSCB were set to 32634119 Phenotypes for gene: HSCB were set to Anaemia, sideroblastic, 5 619523 Review for gene: HSCB was set to AMBER