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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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Dec 2025, 2:17 p.m. | Last Modified: 10 Dec 2025, 2:17 p.m.
Panel Version: 2.34
Created: 10 Dec 2025, 2:17 p.m.
Last Modified: 10 Dec 2025, 2:17 p.m.
Panel version: 2.34

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 4 unrelated cases with neonatal onset inflammatory disease and heterozygous LOF variants in the POMP gene (PMID: 26524591; 29805043; 38111302)
Created: 16 Jun 2025, 11:13 a.m. | Last Modified: 16 Jun 2025, 11:13 a.m.
Panel Version: 2.20
Created: 16 Jun 2025, 11:13 a.m.
Last Modified: 16 Jun 2025, 11:13 a.m.
Panel version: 2.20

Dorota Rowczenio (Royal Free London NHS Trust)

Green List (high evidence)

Sources: Expert Review, Literature, Research, ClinGen
Created: 4 Jun 2025, 4:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Proteasome-associated autoinflammatory syndrome 2

Publications

Created: 4 Jun 2025, 4:20 p.m.

Panel version: 2.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 2, OMIM:618048
OMIM
613386
Clinvar variants
Variants in POMP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: POMP. Tag Q2_25_ NHS_review was removed from gene: POMP.

10 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to POMP. Source Expert Review Green was added to POMP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

16 Jun 2025, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: POMP. Tag Q2_25_ NHS_review tag was added to gene: POMP.

16 Jun 2025, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: POMP were set to PMID: 38111302; PMID: 29805043

16 Jun 2025, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POMP were changed from Proteasome-associated autoinflammatory syndrome 2 to Proteasome-associated autoinflammatory syndrome 2, OMIM:618048

4 Jun 2025, Gel status: 0

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

Dorota Rowczenio (Royal Free London NHS Trust)

gene: POMP was added gene: POMP was added to Autoinflammatory disorders. Sources: Expert Review,Literature,Research,ClinGen Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POMP were set to PMID: 38111302; PMID: 29805043 Phenotypes for gene: POMP were set to Proteasome-associated autoinflammatory syndrome 2 Review for gene: POMP was set to GREEN