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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/32634119/ (1 case)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Anemia, sideroblastic, 5 for gene: HSCB

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HSCB. Added phenotypes Anemia, sideroblastic, 5 for gene: HSCB Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to HSCB. Added phenotypes Anemia, sideroblastic, 5 for gene: HSCB Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

9 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: HSCB were changed from ?Anemia, sideroblastic, 5; Anemia, sideroblastic, 5 to Anemia, sideroblastic, 5

9 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HSCB. Added phenotypes Anemia, sideroblastic, 5 for gene: HSCB Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to HSCB. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes ?Anemia, sideroblastic, 5 for gene: HSCB

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: HSCB was added gene: HSCB was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: HSCB was set to BIALLELIC, autosomal or pseudoautosomal