PanelApp (test)
  1. Genes and Genomic Entities
  2. EXOC3L2:Ensemblv90

EXOC3L2:Ensemblv90

exocyst complex component 3 like 2
OMIM: 616927, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

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


Level 2: Renal and urinary tract disorders
Version 0.160

Component of the following Super Panels:

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

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Brain malformation renal syndrome, MIM# 620943

    Green EXOC3L2 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.96

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brain malformation renal syndrome, MIM# 620943

    Green EXOC3L2 in Mendeliome


    Version 1.3802

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brain malformation renal syndrome, MIM# 620943

    Green EXOC3L2 in Fetal anomalies


    Version 1.482

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Brain malformation renal syndrome, MIM# 620943

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


    Level 2: Renal and urinary tract disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Brain malformation renal syndrome, MIM# 620943

    Green EXOC3L2 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Brain malformation renal syndrome, MIM# 620943

    Green EXOC3L2 in Fetal anomalies


    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Brain malformation renal syndrome, MIM# 620943