Disorders of immune dysregulation
Gene: ITCH

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

Created: 15 Mar 2022, 2:06 a.m.
Last Modified: 15 Mar 2022, 2:06 a.m.
Panel version: Imported from Mendeliome panel version 0.11377

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

Disorders of immune dysregulation Gene: ITCH