GPATCH11:Ensemblv90

G-patch domain containing 11
ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GPATCH11 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related
  • Leber congenital amaurosis and developmental delay

Green GPATCH11 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related
  • Leber congenital amaurosis and developmental delay

Green GPATCH11 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.235

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related
    • Leber congenital amaurosis and developmental delay

    Green GPATCH11 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related
    • Leber congenital amaurosis and developmental delay