1. Genes and Genomic Entities
  2. RING1

RING1

ring finger protein 1
OMIM: 602045, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red RING1 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • microcephaly
  • intellectual disability
Red RING1 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, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • microcephaly
    • intellectual disability