ITCH

itchy E3 ubiquitin protein ligase
OMIM: 606409, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red ITCH in Ciliary Dyskinesia Level 2: Respiratory disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Autoimmune disease, multisystem, with facial dysmorphism 613385 primary ciliary dyskinesia
Green ITCH in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 Tags founder
Green ITCH in Disorders of immune dysregulation Level 2: Immunological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Amber ITCH in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385
Green ITCH in Monogenic Diabetes Level 2: Endocrine disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 Tags founder
Green ITCH in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)
Red ITCH in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385
Green ITCH in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)