RIC1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber RIC1 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • CATIFA syndrome, MIM# 618761

Green RIC1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cleft lip/palate MONDO:0016044, RIC1-related
  • Cleft lip
  • cataract
  • tooth abnormality
  • intellectual disability
  • facial dysmorphism
  • ADHD

Amber RIC1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cleft lip
  • cataract
  • tooth abnormality
  • intellectual disability
  • facial dysmorphism
  • ADHD

Green RIC1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cleft lip/palate MONDO:0016044, RIC1-related