ISLR2

immunoglobulin superfamily containing leucine rich repeat 2
OMIM: 614179, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red ISLR2 in Hydrocephalus


Level 2: Neurology
Version 5.12
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • hydrocephalus
  • arthrogryposis
  • abdominal distension
Red ISLR2 in Arthrogryposis


Level 2: Neurology
Version 9.31
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • hydrocephalus
  • arthrogryposis