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  3. POMP
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Autoinflammatory Disorders

Gene: POMP

Green List (high evidence)
POMP (proteasome maturation protein)
EnsemblGeneIds (GRCh38): ENSG00000132963
EnsemblGeneIds (GRCh37): ENSG00000132963
OMIM: 613386, Gene2Phenotype
POMP is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated individuals, functional data. Truncating variants in penultimate exon, escape NMD, postulated to act through a dominant negative mechanism.
Sources: Expert list
Created: 11 Apr 2020, 5:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Combined immunodeficiency; Autoinflammation

Publications

Created: 11 Apr 2020, 5:24 a.m.

Panel version: Imported from Disorders of immune dysregulation panel version 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • proteasome-associated autoinflammatory syndrome 2 MONDO:0054700
OMIM
613386
Clinvar variants
Variants in POMP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: POMP was added gene: POMP was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POMP were set to 29805043 Phenotypes for gene: POMP were set to proteasome-associated autoinflammatory syndrome 2 MONDO:0054700