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Mendeliome

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single individual reported with compound heterozygous variants in this gene. Good functional data including animal model.
Sources: Expert list
Created: 19 Sep 2021, 8:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anaemia, sideroblastic, 5, MIM# 619523

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Anaemia, sideroblastic, 5, MIM# 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 Mendeliome. 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, MIM# 619523 Review for gene: HSCB was set to AMBER