CPLANE2

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CPLANE2 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.18

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, CPLANE2-related

Green CPLANE2 in Mendeliome


Version 2.541

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, CPLANE2-related

Green CPLANE2 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.20

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, CPLANE2-related

    Green CPLANE2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.151

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ciliopathy, MONDO:0005308, CPLANE2-related

    Green CPLANE2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.25

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ciliopathy, MONDO:0005308, CPLANE2-related

    Green CPLANE2 in Fetal anomalies


    Version 2.75

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ciliopathy, MONDO:0005308, CPLANE2-related