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 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
Green RIN2 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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