Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TOM1Comment on list classification: Relevant phenotype for this panel, but currently only a single family reported. Therefore, rating Red awaiting additional cases/clinical evidence to validate pathogenicity.Created: 18 Sep 2020, 10:55 a.m. | Last Modified: 18 Sep 2020, 10:55 a.m.
Panel Version: 2.190
PMID: 31263572 (2020) - Heterozygous TOM1 p.G307D missense variant detected in two related patients presenting with early-onset autoimmunity, antibody deficiency, and features of combined immunodeficiency. Some functional analyses showing the variant disrupts TOM1–TOLLIP complex formation. Patient-derived cells exhibited defects in autophagy, susceptibility to apoptosis, and diminished STAT and ERK1/2 signalling.Created: 18 Sep 2020, 10:53 a.m. | Last Modified: 18 Sep 2020, 10:53 a.m.
Panel Version: 2.189
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Sources: LiteratureCreated: 2 Sep 2020, 8:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
early-onset autoimmunity; antibody deficiency; combined immunodeficiency; primary immunodeficiency
Publications
Gene: tom1 has been classified as Red List (Low Evidence).
gene: TOM1 was added gene: TOM1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: TOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TOM1 were set to 31263572 Phenotypes for gene: TOM1 were set to early-onset autoimmunity; antibody deficiency; combined immunodeficiency; primary immunodeficiency Penetrance for gene: TOM1 were set to unknown Review for gene: TOM1 was set to RED