SH3BP2

SH3 domain binding protein 2
OMIM: 602104, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red SH3BP2 in Genomic imprinting Version 0.149	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature
Red SH3BP2 in COVID-19 research Level 2: Viral research Version 1.142	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 Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) 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, OMIM:118400
Red SH3BP2 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) 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 Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Cherubism, OMIM:118400
Green SH3BP2 in Autoinflammatory disorders Level 3: Primary immunodeficiency disorders Level 2: Haematological disorders Version 2.1 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