1. Genes and Genomic Entities
  2. ATIC

ATIC

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
OMIM: 601731, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ATIC in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.643

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • AICAR transformylase deficiency (Disorders of purine metabolism)
  • Intellectual disability
Green ATIC in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.92
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
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Intellectual disability
    • AICAR transformylase deficiency (Disorders of purine metabolism)
    Green ATIC in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.155
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AICA-RIBOSURIA
    Green ATIC in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AICA-RIBOSURIA 608688
    Green ATIC in Intellectual disability


    Level 2: Developmental disorders
    Version 9.296
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • AICA-ribosiduria due to ATIC deficiency, 608688
    • AICA-RIBOSURIA (AICAR)
    Red ATIC in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH