CPLANE2

ciliogenesis and planar polarity effector complex subunit 2
OMIM: 620487, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CPLANE2 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, RSG1-related

Green CPLANE2 in Mendeliome


Version 2.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, RSG1-related

Green CPLANE2 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ciliopathy, MONDO:0005308, RSG1-related

    Green CPLANE2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ciliopathy, MONDO:0005308, RSG1-related

    Green CPLANE2 in Fetal anomalies


    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ciliopathy, MONDO:0005308, RSG1-related