FICD

FIC domain containing
Gene2Phenotype

2 panels

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

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0 (1 May 2024)

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