USP18

ubiquitin specific peptidase 18
OMIM: 607057, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green USP18 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification February 2018 IUIS Classification December 2019 London North GLH NHS GMS North West GLH IUIS Classification December 2019 North West GLH London North GLH NHS GMS IUIS Classification February 2018 Phenotypes Pseudo-TORCH syndrome 2, 617397 Autoinflammatory Disorders TORCH like syndrome
Green USP18 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.15 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pseudo-TORCH syndrome 2, 617397 Tags treatable
Green USP18 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.84 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 North West GLH London North GLH NHS GMS IUIS Classification February 2018 Phenotypes Pseudo-TORCH syndrome 2, 617397 Autoinflammatory Disorders
Red USP18 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Pseudo-TORCH syndrome 2, 617397 (includes Thrombocytopenia)
Green USP18 in Intracerebral calcification disorders Level 3: Parenchymal brain disorders Level 2: Neurology and neurodevelopmental disorders Version 1.36	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes pseudo-TORCH syndrome
Green USP18 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Pseudo-TORCH syndrome 2, 617397 Tags treatable
Green USP18 in DDG2P Version 6.426 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Severe pseudo-TORCH syndrome
Green USP18 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.147 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pseudo-TORCH syndrome 2, 617397 Tags treatable
Red USP18 in Intellectual disability Level 2: Developmental disorders Version 9.304 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pseudo-TORCH syndrome 2, 617397 Tags treatable