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Primary immunodeficiency

Gene: TOM1

Red List (low evidence)

TOM1 (target of myb1 membrane trafficking protein)
EnsemblGeneIds (GRCh38): ENSG00000100284
EnsemblGeneIds (GRCh37): ENSG00000100284
OMIM: 604700, Gene2Phenotype
TOM1 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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

Boaz Palterer (University of Florence)

Red List (low evidence)

Sources: Literature
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • early-onset autoimmunity
  • antibody deficiency
  • combined immunodeficiency
  • primary immunodeficiency
OMIM
604700
Clinvar variants
Variants in TOM1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

18 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tom1 has been classified as Red List (Low Evidence).

2 Sep 2020, Gel status: 0

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

Boaz Palterer (University of Florence)

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