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Rare anaemia

Gene: HSCB

Amber List (moderate evidence)
HSCB (HscB mitochondrial iron-sulfur cluster cochaperone)
EnsemblGeneIds (GRCh38): ENSG00000100209
EnsemblGeneIds (GRCh37): ENSG00000100209
OMIM: 608142, Gene2Phenotype
HSCB is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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
Created: 13 Oct 2021, 9:36 a.m.
Last Modified: 13 Oct 2021, 9:36 a.m.
Panel version: 1.29

Zornitza Stark (Australian Genomics)

I don't know

Single individual reported with compound heterozygous variants in this gene. Good functional data including animal model.
Sources: Literature
Created: 11 Oct 2021, 7:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anaemia, sideroblastic, 5 619523

Publications

Created: 11 Oct 2021, 7:13 a.m.

Panel version: 1.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Anemia, sideroblastic, 5, OMIM:619523
Tags
watchlist
OMIM
608142
Clinvar variants
Variants in HSCB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: HSCB.

13 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hscb has been classified as Amber List (Moderate Evidence).

13 Oct 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HSCB were changed from Anaemia, sideroblastic, 5 619523 to ?Anemia, sideroblastic, 5, OMIM:619523

11 Oct 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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