1. Genes and Genomic Entities
  2. RIC1

RIC1

RIC1 homolog, RAB6A GEF complex partner 1
OMIM: 610354, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber RIC1 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CATIFA syndrome 618761
Tags
  • watchlist
  • founder-effect
Amber RIC1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • CATIFA syndrome 618761
    • Cleft lip
    • cataract
    • tooth abnormality
    • intellectual disability
    • facial dysmorphism
    • ADHD
    Tags
    • watchlist
    • founder-effect