RANBP2

RAN binding protein 2
OMIM: 601181, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green RANBP2 in COVID-19 research Level 2: Viral research Version 1.142	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification December 2028 Expert Review Green IUIS Classification February 2018 IUIS Classification December 2019 London North GLH NHS GMS North West GLH IUIS Classification December 2019 IUIS Classification February 2018 London North GLH NHS GMS North West GLH Phenotypes Fever induces acute encephalopathy Defects in intrinsic and innate immunity Defects in Intrinsic and Innate Immunity
Amber RANBP2 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber IUIS Classification December 2019 IUIS Classification February 2018 London North GLH NHS GMS North West GLH Phenotypes Defects in intrinsic and innate immunity Defects in Intrinsic and Innate Immunity Fever induces acute encephalopathy Tags Q4_23_promote_green
Amber RANBP2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Acute necrotizing encephalopathy (Other metabolic disorders) Tags treatable
Amber RANBP2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Acute necrotizing encephalopathy (Other metabolic disorders)
Red RANBP2 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO 285648
Amber RANBP2 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Expert Review Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033
Red RANBP2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033
Red RANBP2 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH