ISLR2

immunoglobulin superfamily containing leucine rich repeat 2
OMIM: 614179, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber ISLR2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

1 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 0.127

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

Amber ISLR2 in Mendeliome


Version 1.2302

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

Amber ISLR2 in Fetal anomalies


Version 1.313

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