1. Genes and Genomic Entities
  2. SH3BP2

SH3BP2

SH3 domain binding protein 2
OMIM: 602104, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red SH3BP2 in COVID-19 research


Level 2: Viral research
Version 1.147

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
  • Cherubism, OMIM:118400
  • Autoinflammatory Disorders
Red SH3BP2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.88
Latest signed off version: v8.0 (30 Apr 2025)

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
  • Cherubism, OMIM:118400
  • Autoinflammatory Disorders
Green SH3BP2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

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
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Cherubism, OMIM:118400
    Amber SH3BP2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Cherubism, OMIM:118400
    Red SH3BP2 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Cherubism, OMIM:118400
    Green SH3BP2 in Autoinflammatory disorders


    Level 2: Immunology
    Version 2.35
    Latest signed off version: v2.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Cherubism, OMIM:118400