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Primary immunodeficiency

Gene: TRIM22

Amber List (moderate evidence)

TRIM22 (tripartite motif containing 22)
EnsemblGeneIds (GRCh38): ENSG00000132274
EnsemblGeneIds (GRCh37): ENSG00000132274
OMIM: 606559, Gene2Phenotype
TRIM22 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:45 p.m. | Last Modified: 20 Oct 2020, 3:45 p.m.
Panel Version: 2.363

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Green based on expert review and evidence.
Created: 15 Apr 2020, 3:25 p.m. | Last Modified: 15 Apr 2020, 3:25 p.m.
Panel Version: 2.72

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported with bi-allelic variants in this gene, and very early onset IBD, some functional data. This gene is on our IBD panel.
Created: 12 Apr 2020, 4:24 a.m. | Last Modified: 12 Apr 2020, 4:24 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inflammatory bowel disease

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
Phenotypes
  • Autoinflammatory Disorders
  • Granulomatous colitis
  • Diseases of Immune Dysregulation
  • TRIM22
  • Inflammatory bowel disease
Tags
for-review
OMIM
606559
Clinvar variants
Variants in TRIM22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: trim22 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TRIM22.

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: trim22 has been classified as Green List (High Evidence).

15 Apr 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TRIM22 were changed from Autoinflammatory Disorders; Granulomatous colitis; Diseases of Immune Dysregulation; TRIM22 to Autoinflammatory Disorders; Granulomatous colitis; Diseases of Immune Dysregulation; TRIM22; Inflammatory bowel disease

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TRIM22 were updated from 32048120; 32086639 to 26836588; 32086639; 32048120

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: TRIM22 was added gene: TRIM22 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM22 were set to 32048120; 32086639 Phenotypes for gene: TRIM22 were set to Autoinflammatory Disorders; Granulomatous colitis; Diseases of Immune Dysregulation; TRIM22