EXOC3L2

exocyst complex component 3 like 2
OMIM: 616927, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber EXOC3L2 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.177

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dandy-Walker malformation
    • renal dysplasia
    • bone marrow failure
    Tags
    • watchlist
    Green EXOC3L2 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dandy-Walker malformation
    • Meckel-Gruber-like syndrome
    Tags
    • gene-checked
    Amber EXOC3L2 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • anhydramnios
    • echogenic kidneys
    • hydrocephalus
    • Dandy-Walker malformation
    • enlarged echogenic kidneys
    Tags
    • watchlist
    Amber EXOC3L2 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Dandy-Walker malformation
    • enlarged echogenic kidneys
    • echogenic kidneys
    • hydrocephalus
    • anhydramnios
    Tags
    • Q1_24_promote_green
    Red EXOC3L2 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.6
    Latest signed off version: v3.5 (1 May 2024)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Expert Review Red
    • Expert list
    Phenotypes
    • Dandy-Walker malformation
    • enlarged echogenic kidneys
    • echogenic kidneys
    • hydrocephalus
    • anhydramnios