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Intellectual disability

Gene: ITCH

Red List (low evidence)

ITCH (itchy E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000078747
EnsemblGeneIds (GRCh37): ENSG00000078747
OMIM: 606409, Gene2Phenotype
ITCH is in 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: There is evidence that shows that ITCH is relevant to this panel; however, as there is only 1 case it has been given a red gene rating.
Created: 26 Feb 2019, 1:49 p.m.
Comment on publications: PMID: 20170897 describes a large Amish family with 10 affected individuals from 8 consanguineous and related families with multisystem autoimmune disease with facial dysmorphism. The affected individuals have organomegaly, failure to thrive, developmental delay, dysmorphic features, and autoimmune inflammatory cell infiltration of the lungs, liver, and gut.
Created: 22 Feb 2019, 3:37 p.m.

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Should be GREY. Appears that variants in this gene are linked to immunological phenotypes rather than any Intellectual Disability Phenotypes.
Created: 31 Oct 2017, 10:36 a.m.

Mode of inheritance
Unknown

Details

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

History Filter Activity

26 Feb 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: itch has been classified as Red List (Low Evidence).

22 Feb 2019, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ITCH were set to

22 Feb 2019, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

22 Feb 2019, Gel status: 0

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

6 Jul 2018, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: itch has been removed from the panel.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ITCH was added to Intellectual disability panel. Sources: Expert Review Red

29 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ITCH was created by Ellen McDonagh