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  3. LAMTOR2
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Phagocyte Defects

Gene: LAMTOR2

Amber List (moderate evidence)
LAMTOR2 (late endosomal/lysosomal adaptor, MAPK and MTOR activator 2)
EnsemblGeneIds (GRCh38): ENSG00000116586
EnsemblGeneIds (GRCh37): ENSG00000116586
OMIM: 610389, Gene2Phenotype
LAMTOR2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single Mennonite family with supportive functional data.
Created: 28 Jul 2021, 3:43 a.m. | Last Modified: 28 Jul 2021, 3:43 a.m.
Panel Version: 0.102

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798

Publications

Created: 28 Jul 2021, 3:43 a.m.
Last Modified: 28 Jul 2021, 3:43 a.m.
Panel version: 0.102

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798
OMIM
610389
Clinvar variants
Variants in LAMTOR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamtor2 has been classified as Amber List (Moderate Evidence).

28 Jul 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMTOR2 were changed from to Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798

28 Jul 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMTOR2 were set to

28 Jul 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LAMTOR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamtor2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMTOR2 was added gene: LAMTOR2 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: LAMTOR2 was set to Unknown