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Newborns main panel

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

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 36338154 - 4 cases and 1 large family, one case had HSCT
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autoimmune disease, multisystem, with facial dysmorphism
OMIM
606409
Clinvar variants
Variants in ITCH
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: ITCH was added gene: ITCH was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism