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  2. Cytopenia - NOT Fanconi anaemia
  3. LAMTOR2
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Cytopenia - NOT Fanconi anaemia

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 3 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Seems to be more involved with B cell development - better placed on the SCID panel? Associated with neutropenia (accumulation of neutrophils in the bone marrow), short stature and skin hypopigmentation (albinism); North West GLH: Primary immunodeficiency syndrome; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Created: 4 Nov 2019, 7:30 p.m.
Last Modified: 4 Nov 2019, 7:30 p.m.
Panel version: 0.135

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Immunodeficiency due to defect in MAPBP-interacting protein, 610798
OMIM
610389
Clinvar variants
Variants in LAMTOR2
Penetrance
None
Panels with this gene

History Filter Activity

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to LAMTOR2.

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Red was added to LAMTOR2.

4 Nov 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene LAMTOR2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Immunodeficiency due to defect in MAPBP-interacting protein, 610798 for gene: LAMTOR2

4 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: LAMTOR2 was added gene: LAMTOR2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: LAMTOR2 was set to