ITGAV

integrin subunit alpha V
OMIM: 193210, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ITGAV in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372

Green ITGAV in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 1.34

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372

    Green ITGAV in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372

    Green ITGAV in Fetal anomalies


    Version 1.481

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372