LAMTOR2 gene related symptoms and diseases
All the information presented here about the LAMTOR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LAMTOR2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Immunodeficiency | Very Common - Between 80% and 100% cases |
| Coarse facial features | Very Common - Between 80% and 100% cases |
| Neutropenia | Very Common - Between 80% and 100% cases |
| Hypopigmentation of the skin | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LAMTOR2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypopigmentation of hair
- IgM deficiency
- Partial albinism
- Recurrent bronchopulmonary infections
Rare diseases associated to LAMTOR2 gene
Here you will find a list of rare diseases related to the LAMTOR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY
Alternate names
PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY Is also known as primary immunodeficiency syndrome with short stature
Description
Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
Most common symptoms of PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY
- Short stature
- Immunodeficiency
- Coarse facial features
- Neutropenia
- Hypopigmentation of the skin
More info about PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY
Search interest in LAMTOR2
Potential gene panels for LAMTOR2 gene
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24
More info about this panel United States.
LAMTOR2 (ROBLD3) Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the LAMTOR2 gene.
More info about this panel United States.
Inherited Neutropenia panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia panel by next-generation sequencing (NGS) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3
More info about this panel United States.
Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Inherited Neutropenia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia Deletion/Duplication Panel that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 LYST VPS13B CSF3R G6PC3 CXCR4
More info about this panel United States.
LAMTOR2 (ROBLD3) Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the LAMTOR2 gene.
More info about this panel United States.
Hereditary neutropenia (NGS panel for 22 genes) Panel
Portugal.
By CGC Genetics Hereditary neutropenia (NGS panel for 22 genes) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Severe Congenital Neutropenia Sequencing Panel with CNV Detection that also includes the following genes: SMARCD2 TAZ WAS WIPF1 WDR1 VPS45 HAX1 SBDS LYST VPS13B
More info about this panel United States.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Immunodeficiency due to defect in MAPBP-interacting protein Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LAMTOR2 gene.
More info about this panel Germany.
Defects of phagocytosis Panel Panel
Germany.
By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3
More info about this panel Germany.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Phagocyte Defects Panel Panel
United States.
By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA
More info about this panel United States.
LAMTOR2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LAMTOR2 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Congenital Neutropenia Panel Panel
Finland.
By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST
More info about this panel Finland.
Severe Congenital Neutropenia Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Severe Congenital Neutropenia Gene Set that also includes the following genes: RUNX1 SRP54 TAZ TCIRG1 WAS VPS45 HAX1 SBDS LYST VPS13B
More info about this panel United States.
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel
Spain.
By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel Spain.
Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TAZ WAS HAX1 CSF3R G6PC3 LAMTOR2 ELANE GFI1 RAC2
More info about this panel Spain.
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes Panel
Spain.
By Reference Laboratory Genetics Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: TAZ WAS WIPF1 HAX1 SBDS LYST VPS13B CSF3R G6PC3 CXCR4
More info about this panel Spain.
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