FICD

FIC domain containing
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber FICD in Neonatal diabetes


Level 2: Endocrinology
Version 5.17
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert review
Phenotypes
  • Neonatal diabetes
  • Neonatal insulin-dependent diabetes mellitus, HP:0000857
  • severe neurodevelopmental delay, HP:0012758
  • skeletal abnormalities
Tags
  • watchlist
Amber FICD in Monogenic diabetes


Level 2: Endocrinology
Version 3.8
Latest signed off version: v3.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic paraplegia 92, autosomal recessive, OMIM:620911
  • diabetes mellitus, MONDO:0005015
  • Neonatal insulin-dependent diabetes mellitus, HP:0000857
Tags
  • Q3_25_promote_green
  • recurrent-variant
Green FICD in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.30
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 92, autosomal recessive, OMIM:620911
Tags
  • gene-checked
  • recurrent-variant
Red FICD 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 Red
    Phenotypes
    • FICD-related infancy-onset diabetes and neurodevelopmental disorder
    Amber FICD 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 Amber
    • Expert review
    Phenotypes
    • Neonatal diabetes
    • Neonatal insulin-dependent diabetes mellitus, HP:0000857
    • severe neurodevelopmental delay, HP:0012758
    • skeletal abnormalities.
    Tags
    • watchlist
    Green FICD in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Spastic paraplegia 92, autosomal recessive, OMIM:620911
    Tags
    • gene-checked