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 - narrow panel


Level 2: Neurology
Version 7.24
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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 1.39
    Latest signed off version: v1.2 (17 Feb 2020)

    		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 8.113
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 4.31
    Latest signed off version: v4.0 (30 Apr 2025)

    		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 9.54
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

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