Coarse facial features including Coffin-Siris-like disorders

Gene: LAMTOR2

Red List (low evidence)

LAMTOR2 (late endosomal/lysosomal adaptor, MAPK and MTOR activator 2)
EnsemblGeneIds (GRCh38): ENSG00000116586
EnsemblGeneIds (GRCh37): ENSG00000116586
OMIM: 610389, Gene2Phenotype
LAMTOR2 is in 5 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.

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

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

29 Jan 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

LAMTOR2 was created by alicegardham