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Newborns main panel

Gene: OTULIN

Amber List (moderate evidence)
OTULIN (OTU deubiquitinase with linear linkage specificity)
EnsemblGeneIds (GRCh38): ENSG00000154124
EnsemblGeneIds (GRCh37): ENSG00000154124
OMIM: 615712, Gene2Phenotype
OTULIN is in 10 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Green to Amber as this gene does not satisfy Principle C.
Created: 5 Feb 2024, 9:56 a.m. | Last Modified: 5 Feb 2024, 9:56 a.m.
Panel Version: 0.278
Created: 5 Feb 2024, 9:56 a.m.
Last Modified: 5 Feb 2024, 9:56 a.m.
Panel version: 0.278

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 30804083 - 1 case and review 3 previous familiesPMID: 30796585 - 1 casePMID: 35170849 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

5 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: OTULIN were changed from OTULIN deficiency; Autoinflammation, panniculitis, and dermatosis syndrome to Autoinflammation, panniculitis, and dermatosis syndrome

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Autoinflammation, panniculitis, and dermatosis syndrome for gene: OTULIN

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to OTULIN. Added phenotypes OTULIN deficiency for gene: OTULIN Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to OTULIN. Added phenotypes OTULIN deficiency for gene: OTULIN Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to OTULIN. Added phenotypes OTULIN deficiency for gene: OTULIN Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: OTULIN was added gene: OTULIN was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal