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


Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

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