Combined Immunodeficiency
Gene: TOM1

TOM1 (target of myb1 membrane trafficking protein)
EnsemblGeneIds (GRCh38): ENSG00000100284
EnsemblGeneIds (GRCh37): ENSG00000100284
OMIM: 604700, Gene2Phenotype
TOM1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Parent and child reported with onset of atopic eczema and recurrent respiratory infections in the first decade of life; autoimmune enteropathy with vomiting, diarrhoea, and poor overall growth. More variable features included autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies showed hypogammaglobulinaemia and abnormal T-cell function, consistent with a combined immunodeficiency. Missense variant in TOM1, with limited functional data.
Sources: Expert list
Created: 4 Sep 2021, 1:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 85 and autoimmunity, MIM# 619510

Publications

31263572

Created: 4 Sep 2021, 1:59 a.m.

Panel version: 1.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert list

Phenotypes

Immunodeficiency 85 and autoimmunity, MIM# 619510

OMIM

604700

Clinvar variants

Variants in TOM1

Penetrance

None

Publications

31263572

Panels with this gene

History Filter Activity

4 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Sep 2021, Gel status: 1

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