ISLR2

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber ISLR2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • hydrocephalus
    • arthrogryposis
    • abdominal distension

    Amber ISLR2 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.123

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • hydrocephalus
    • arthrogryposis
    • abdominal distension

    Amber ISLR2 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • hydrocephalus
    • arthrogryposis
    • abdominal distension

    Amber ISLR2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert list
    Phenotypes
    • Hydrocephalus
    • arthrogryposis