RIN2

Ras and Rab interactor 2
OMIM: 610222, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green RIN2 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis (MIM# 613075)

Green RIN2 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green RIN2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075

Red RIN2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075

Green RIN2 in Cutis Laxa


Level 2: Dermatological disorders
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • GeneReviews
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis MIM#613075

Green RIN2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)

Green RIN2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075

Green RIN2 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)