COVID-19 research
Gene: POMP

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

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Agree with green rating
Created: 23 Oct 2019, 7:04 a.m. | Last Modified: 23 Oct 2019, 7:04 a.m.

Panel Version: 1.132

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
combined immunodeficiency with autoinflammation

Publications

29805043

Created: 23 Oct 2019, 7:04 a.m.
Last Modified: 23 Oct 2019, 7:04 a.m.
Panel version: Imported from Primary immunodeficiency panel version 1.132

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

3 unrelated cases with neonatal onset inflammatory disease - monoallelic. New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being relevant to PID so was rated Green by the group.
Created: 27 Sep 2019, 2:49 p.m. | Last Modified: 27 Sep 2019, 2:49 p.m.

Panel Version: 1.132

Created: 27 Sep 2019, 2:49 p.m.
Last Modified: 27 Sep 2019, 2:49 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.132

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

London North GLH
NHS GMS
Expert Review Green
North West GLH
Expert Review Green
North West GLH
NHS GMS
London North GLH

Phenotypes

Proteasome-associated autoinflammatory syndrome 2, 618048
CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
combined immunodeficiency with autoinflammation

OMIM

613386

Clinvar variants

Variants in POMP

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: POMP was added gene: POMP was added to Viral susceptibility. Sources: North West GLH,Expert Review Green,NHS GMS,London North GLH Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POMP were set to 29805043; 26524591 Phenotypes for gene: POMP were set to Proteasome-associated autoinflammatory syndrome 2, 618048; CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); combined immunodeficiency with autoinflammation

COVID-19 research Gene: POMP