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Primary immunodeficiency

Gene: POMP

Green List (high evidence)

POMP (proteasome maturation protein)
EnsemblGeneIds (GRCh38): ENSG00000132963
EnsemblGeneIds (GRCh37): ENSG00000132963
OMIM: 613386, Gene2Phenotype
POMP is in 6 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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • North West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
  • Proteasome-associated autoinflammatory syndrome 2, 618048
  • combined immunodeficiency with autoinflammation
OMIM
613386
Clinvar variants
Variants in POMP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Oct 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: POMP were changed from CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 2, 618048 to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 2, 618048; combined immunodeficiency with autoinflammation

30 Oct 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: POMP were set to 26524591

30 Oct 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: POMP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Sep 2019, Gel status: 3

Added New Source, Added New Source, Added New Source, Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to POMP. Source NHS GMS was added to POMP. Source North West GLH was added to POMP. Source Expert Review Green was added to POMP. Rating Changed from No List (delete) to Green List (high evidence)

27 Sep 2019, Gel status: 0

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

Louise Daugherty (Genomics England Curator)

gene: POMP was added gene: POMP was added to Primary immunodeficiency. Sources: Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POMP were set to 26524591 Phenotypes for gene: POMP were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 2, 618048