1. Genes and Genomic Entities
  2. FRYL

FRYL

FRY like transcription coactivator
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber FRYL in Fetal anomalies


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, FRYL-related
Green FRYL in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MONDO:0975953
    • FRYL-related neurodevelopmental disorder with dysmorphic facial features, with or without congenital abnormalities
    Amber FRYL in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092
    Tags
    • watchlist