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Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 POMP Arina Puzriakova 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.135 POMP Louise Daugherty 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.134 POMP Louise Daugherty Publications for gene: POMP were set to 26524591
Primary immunodeficiency or monogenic inflammatory bowel disease v1.133 POMP Louise Daugherty Mode of inheritance for gene: POMP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 POMP Sophie Hambleton reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29805043; Phenotypes: combined immunodeficiency with autoinflammation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 POMP Louise Daugherty reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 POMP Louise Daugherty 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)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.131 POMP Louise Daugherty 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