SH3BP2

SH3 domain binding protein 2
OMIM: 602104, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red SH3BP2 in Genomic imprinting


Version 0.104

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature

Red SH3BP2 in COVID-19 research


Level 2: Viral research
Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Autoinflammatory Disorders
  • Bone degeneration in jaws
  • Cherubism 118400

Red SH3BP2 in Primary immunodeficiency


Version 2.478
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • GRID V2.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Bone degeneration in jaws
  • Cherubism 118400
  • Autoinflammatory Disorders

Green SH3BP2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.137
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Cherubism 118400

    Red SH3BP2 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Cherubism

    Green SH3BP2 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cherubism, 118400