Galloway-Mowat syndrome 2, X-linked
disease diseaseOn this page
Also known as Galloway-Mowat syndrome 2, X-linked, X-linked recessiveGAMOS2
Summary
Galloway-Mowat syndrome 2, X-linked (MONDO:0033006) is a disease caused by LAGE3 (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: LAGE3 (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 14
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Galloway-Mowat syndrome 2, X-linked |
| Mondo ID | MONDO:0033006 |
| OMIM | 301006 |
| DOID | DOID:0080244 |
| UMLS | C4538784 |
| MedGen | 1625619 |
| GARD | 0015281 |
| Is cancer (heuristic) | no |
Also known as: Galloway-Mowat syndrome 2, X-linked · Galloway-Mowat syndrome 2, X-linked, X-linked recessive · GAMOS2
Data availability: 14 ClinVar variants · 4 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by body system or component › syndromic disease › Galloway-Mowat syndrome › Galloway-Mowat syndrome 2, X-linked
Related subtypes (9): Galloway-Mowat syndrome 9, Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 7, Galloway-Mowat syndrome 8, Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 5
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
14 retrieved; paginated sample, class counts are floors:
8 uncertain significance, 3 pathogenic, 1 benign, 1 conflicting classifications of pathogenicity, 1 benign/likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 444871 | NM_006014.5(LAGE3):c.316G>T (p.Val106Phe) | LAGE3 | Pathogenic | no assertion criteria provided |
| 444872 | NM_006014.5(LAGE3):c.410T>C (p.Phe137Ser) | LAGE3 | Pathogenic | no assertion criteria provided |
| 444873 | NM_006014.5(LAGE3):c.188+1G>A | LAGE3 | Pathogenic | no assertion criteria provided |
| 1319855 | NM_006014.5(LAGE3):c.29G>A (p.Gly10Glu) | LAGE3 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1325579 | NM_006014.5(LAGE3):c.287A>T (p.Asp96Val) | LAGE3 | Uncertain significance | criteria provided, single submitter |
| 2573023 | NM_006014.5(LAGE3):c.189-2A>G | LAGE3 | Uncertain significance | criteria provided, single submitter |
| 2574042 | NM_006014.5(LAGE3):c.2T>G (p.Met1Arg) | LAGE3 | Uncertain significance | criteria provided, single submitter |
| 2627534 | NM_006014.5(LAGE3):c.262C>T (p.Pro88Ser) | LAGE3 | Uncertain significance | criteria provided, single submitter |
| 2665070 | NM_006014.5(LAGE3):c.184A>G (p.Ile62Val) | LAGE3 | Uncertain significance | criteria provided, single submitter |
| 3341335 | NM_006014.5(LAGE3):c.209C>T (p.Pro70Leu) | LAGE3 | Uncertain significance | criteria provided, single submitter |
| 3731528 | NM_006014.5(LAGE3):c.59G>C (p.Gly20Ala) | LAGE3 | Uncertain significance | criteria provided, single submitter |
| 3899940 | NM_006014.5(LAGE3):c.389T>G (p.Val130Gly) | LAGE3 | Uncertain significance | criteria provided, single submitter |
| 1235001 | NM_006014.5(LAGE3):c.*19G>C | LAGE3 | Benign | criteria provided, multiple submitters, no conflicts |
| 721916 | NM_006014.5(LAGE3):c.362T>C (p.Ile121Thr) | LAGE3 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| LAGE3 | Strong | X-linked | Galloway-Mowat syndrome 2, X-linked | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| LAGE3 | Orphanet:2065 | Galloway-Mowat syndrome |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| LAGE3 | HGNC:26058 | ENSG00000196976 | Q14657 | EKC/KEOPS complex subunit LAGE3 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| LAGE3 | EKC/KEOPS complex subunit LAGE3 | Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Other/Unknown | 1 | 1.8× | 0.558 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| LAGE3 | Other/Unknown | no | CTAG/Pcc1 |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| Brodmann (1909) area 10 | 1 |
| oocyte | 1 |
| secondary oocyte | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| LAGE3 | 273 | ubiquitous | marker | oocyte, secondary oocyte, Brodmann (1909) area 10 |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| LAGE3 | 870 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| LAGE3 | Q14657 | 2 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| tRNA processing | 1 | 356.9× | 0.005 | LAGE3 |
| tRNA modification in the nucleus and cytosol | 1 | 292.8× | 0.005 | LAGE3 |
| Metabolism of RNA | 1 | 41.7× | 0.024 | LAGE3 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| tRNA threonylcarbamoyladenosine metabolic process | 1 | 2808.7× | 7e-04 | LAGE3 |
| tRNA processing | 1 | 842.6× | 0.001 | LAGE3 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| LAGE3 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| LAGE3 | 1 | Binding:1 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | LAGE3 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| LAGE3 | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: LAGE3