PRKG2:Ensemblv90

protein kinase, cGMP-dependent, type II
OMIM: 601591, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PRKG2 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acromesomelic dysplasia 4, MIM# 619636
  • Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638

Green PRKG2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Acromesomelic dysplasia 4, MIM# 619636
  • Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638

Green PRKG2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Literature
  • Expert Review Green
Phenotypes
  • Acromesomelic dysplasia 4, MIM# 619636
  • Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638