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 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CATIFA syndrome 618761
Tags
  • watchlist
  • founder-effect
Amber RIC1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.524
Latest signed off version: v5.0 (22 Mar 2023)

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