ITCH

itchy E3 ubiquitin protein ligase
OMIM: 606409, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green ITCH in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features Diseases of Immune Dysregulation Autoimmune disease, multisystem, with facial dysmorphism, 613385 Syndromic multisystem autoimmune disease due to Itch deficiency Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
Green ITCH in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) Syndromic multisystem autoimmune disease due to Itch deficiency Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features Diseases of Immune Dysregulation Tags founder-effect
Red ITCH in Respiratory ciliopathies including non-CF bronchiectasis Version 3.11 Latest signed off version: v3.10 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Autoimmune disease, multisystem, with facial dysmorphism OMIM:613385 syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 primary ciliary dyskinesia
Amber ITCH in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM
Green ITCH in DDG2P Version 4.1 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM 613385
Red ITCH in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385
Green ITCH in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385