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 2.0

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

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