PanelApp (test)
  1. Genes and Genomic Entities
  2. EXOC3L2

EXOC3L2

exocyst complex component 3 like 2
OMIM: 616927, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green EXOC3L2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dandy-Walker malformation
    • renal dysplasia
    • bone marrow failure

    Green EXOC3L2 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.54

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dandy-Walker malformation
    • renal dysplasia
    • bone marrow failure

    Green EXOC3L2 in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dandy-Walker malformation, MONDO:0009072
    • renal dysplasia
    • bone marrow failure

    Green EXOC3L2 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Dandy-Walker malformation, MONDO:0009072
    • Meckel-Gruber-like syndrome