RNF31

ring finger protein 31
OMIM: 612487, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green RNF31 in COVID-19 research Level 2: Viral research Version 1.141	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification February 2018 IUIS Classification December 2019 GRID V2.0 Victorian Clinical Genetics Services IUIS Classification December 2019 IUIS Classification February 2018 Victorian Clinical Genetics Services GRID V2.0 Phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis autoinflammation and combined immunodeficiency Combined immunodeficiencies with associated or syndromic features Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia
Amber RNF31 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Amber IUIS Classification December 2019 IUIS Classification February 2018 Victorian Clinical Genetics Services GRID V2.0 Phenotypes Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Polyglucosan body myopathy, early-onset, with or without immunodeficiency autoinflammation and combined immunodeficiency Combined immunodeficiencies with associated or syndromic features
Red RNF31 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Red Expert list Phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192