1. Genes and Genomic Entities
  2. RIN2

RIN2

Ras and Rab interactor 2
OMIM: 610222, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green RIN2 in Ehlers Danlos syndrome with a likely monogenic cause


Level 2: Musculoskeletal
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
Amber RIN2 in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
Green RIN2 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS