1. Genes and Genomic Entities
  2. ISCA1

ISCA1

iron-sulfur cluster assembly 1
OMIM: 611006, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ISCA1 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 5, OMIM:617613
    Green ISCA1 in Pyruvate dehydrogenase (PDH) deficiency


    Level 2: Mitochondrial
    Version 1.44
    Latest signed off version: v1.41 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM:617613
    • multiple mitochondrial dysfunctions syndrome 5 MONDO:0033282
    Green ISCA1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.32
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
    Green ISCA1 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.25
    Latest signed off version: v5.17 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
    Green ISCA1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.25
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613