GNB2:Ensemblv90

G protein subunit beta 2
OMIM: 139390, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GNB2 in Mendeliome


Version 1.3802

4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and dysmorphic facies 619503

Red GNB2 in Sick sinus syndrome


Level 2: Cardiovascular disorders
Version 1.5

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Sick sinus syndrome 4, MIM# 619464

Green GNB2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and dysmorphic facies, MIM# 619503

Red GNB2 in Vascular Malformations_Somatic


Level 2: Cardiovascular disorders
Version 1.16

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Sturge-Weber syndrome, somatic, mosaic
    Tags
    • somatic

    Red GNB2 in Sick sinus syndrome


    Level 2: Cardiovascular disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Red
    Phenotypes
    • Sick sinus syndrome 4, MIM# 619464

    Green GNB2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and dysmorphic facies, MIM# 619503