Red cell disorders
Gene: HSCB
HSCB (HscB mitochondrial iron-sulfur cluster cochaperone)
EnsemblGeneIds (GRCh38): ENSG00000100209
EnsemblGeneIds (GRCh37): ENSG00000100209
OMIM: 608142, Gene2Phenotype
HSCB is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000100209
EnsemblGeneIds (GRCh37): ENSG00000100209
OMIM: 608142, Gene2Phenotype
HSCB is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with compound heterozygous variants in this gene. Good functional data including animal model.
Sources: Expert listCreated: 19 Sep 2021, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anaemia, sideroblastic, 5 619523
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Anaemia, sideroblastic, 5 619523
- OMIM
- 608142
- Clinvar variants
- Variants in HSCB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
19 Sep 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hscb has been classified as Amber List (Moderate Evidence).
19 Sep 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hscb has been classified as Amber List (Moderate Evidence).
19 Sep 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HSCB was added gene: HSCB was added to Red cell disorders. Sources: Expert list 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