1. Genes and Genomic Entities
  2. FTCD

FTCD

formimidoyltransferase cyclodeaminase
OMIM: 606806, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red FTCD in Rare anaemia


Level 2: Haematology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • 229100 Glutamate formiminotransferase deficiency
Green FTCD in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Glutamate formiminotransferase deficiency 229100
Tags
  • ngs-false-positive-region
Green FTCD in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
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
    • London North GLH
    • NHS GMS
    Phenotypes
    • Glutamate formiminotransferase deficiency 229100
    Red FTCD in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
    Green FTCD 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
    • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 229100
    Green FTCD in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    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
    • Expert Review Green
    Phenotypes
    • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (FIGLU-URIA)
    Tags
    • ngs-false-positive-region
    Red FTCD 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