Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: POMPEnsemblGeneIds (GRCh38): ENSG00000132963
EnsemblGeneIds (GRCh37): ENSG00000132963
OMIM: 613386, Gene2Phenotype
POMP is in 7 panels
2 reviews
Sophie Hambleton (Newcastle University)
Agree with green ratingCreated: 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)
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
-
- Proteasome-associated autoinflammatory syndrome 2, OMIM: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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: POMP were changed from CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 2, 618048; combined immunodeficiency with autoinflammation to Proteasome-associated autoinflammatory syndrome 2, OMIM:618048; CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Combined immunodeficiency with autoinflammation
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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: POMP were set to 26524591
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
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)
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