Disorders of immune dysregulation

Gene: ITCH

Green List (high evidence)

ITCH (itchy E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000078747
EnsemblGeneIds (GRCh37): ENSG00000078747
OMIM: 606409, Gene2Phenotype
ITCH is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple Amish families reported, founder variant. Second unrelated family reported in PMID 31091003, supportive functional data.
Created: 15 Mar 2022, 2:06 a.m. | Last Modified: 15 Mar 2022, 2:06 a.m.
Panel Version: 0.11377

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
606409
Clinvar variants
Variants in ITCH
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITCH was added gene: ITCH was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ITCH was set to Unknown