HSCB

HscB mitochondrial iron-sulfur cluster cochaperone
OMIM: 608142, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber HSCB in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Anaemia, sideroblastic, 5, MIM# 619523

Amber HSCB in Red cell disorders


Level 2: Haematological disorders
Version 1.29

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Anaemia, sideroblastic, 5 619523