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This Panel is marked as Internal

Coarse facial features including Coffin-Siris-like disorders
Gene: LAMTOR2

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Only reported in one family
Created: 23 Nov 2016, 10:47 a.m.

Created: 23 Nov 2016, 10:47 a.m.

Panel version: 0.51

Alice Gardham (North West Thames Genetics)

I don't know

Reported in one family only
Created: 31 Jan 2016, 1:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency due to defect in MAPBP-interacting protein

Publications

17195838

Created: 31 Jan 2016, 1:28 p.m.

Panel version: 0.21

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

OMIM

610389

Clinvar variants

Variants in LAMTOR2

Penetrance

Complete

Panels with this gene

History Filter Activity

23 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jan 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

LAMTOR2 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature