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Intellectual disability syndromic and non-syndromic

Gene: ITCH

Amber List (moderate 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)

I don't know

Unrelated individual reported in PMID 31091003 had normal intellect.
Created: 15 Mar 2022, 2:06 a.m. | Last Modified: 15 Mar 2022, 2:06 a.m.
Panel Version: 0.4571
Multiple affected individuals reported from Amish community, however, single variant, founder effect.
Created: 5 Dec 2019, 9:40 a.m. | Last Modified: 5 Dec 2019, 9:40 a.m.
Panel Version: 0.492

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385
OMIM
606409
Clinvar variants
Variants in ITCH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITCH were set to 20170897

5 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itch has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITCH were changed from to Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385

5 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITCH were set to

5 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

5 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itch has been classified as Amber List (Moderate Evidence).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ITCH was set to Unknown