Galloway-Mowat syndrome 3

Summary

Galloway-Mowat syndrome 3 (MONDO:0033007) is a disease caused by OSGEP (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: OSGEP (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 32

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Galloway-Mowat syndrome 3
Mondo ID	MONDO:0033007
OMIM	617729
DOID	DOID:0080245
UMLS	C4540266
MedGen	1627611
GARD	0016247
Is cancer (heuristic)	no

Also known as: Galloway-Mowat syndrome 3 · GAMOS3

Data availability: 32 ClinVar variants · 2 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 3

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 2, X-linked, 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

32 retrieved; paginated sample, class counts are floors:

12 likely pathogenic, 6 uncertain significance, 5 benign, 4 pathogenic/likely pathogenic, 3 pathogenic, 2 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
444887	NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)	LOC107372315	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
444889	NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe)	LOC107372315	Pathogenic	criteria provided, single submitter
4531209	NM_017807.4(OSGEP):c.148C>T (p.Arg50Ter)	LOC107372315	Pathogenic	criteria provided, multiple submitters, no conflicts
444886	NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln)	OSGEP	Pathogenic	criteria provided, multiple submitters, no conflicts
444890	NM_017807.4(OSGEP):c.839G>A (p.Arg280His)	OSGEP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
444892	NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)	OSGEP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
444893	NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln)	OSGEP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1676512	NM_017807.4(OSGEP):c.365G>T (p.Gly122Val)	LOC107372315	Likely pathogenic	criteria provided, single submitter
2663890	NM_017807.4(OSGEP):c.118T>C (p.Phe40Leu)	LOC107372315	Likely pathogenic	criteria provided, single submitter
3780066	NM_017807.4(OSGEP):c.96C>A (p.Tyr32Ter)	LOC107372315	Likely pathogenic	criteria provided, single submitter
444891	NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)	LOC107372315	Likely pathogenic	criteria provided, single submitter
521157	NM_017807.4(OSGEP):c.319G>A (p.Val107Met)	LOC107372315	Likely pathogenic	criteria provided, multiple submitters, no conflicts
974487	NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe)	LOC107372315	Likely pathogenic	criteria provided, single submitter
974488	NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys)	LOC107372315	Likely pathogenic	criteria provided, single submitter
1236169	NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr)	OSGEP	Likely pathogenic	criteria provided, single submitter
1236170	NM_017807.4(OSGEP):c.839G>T (p.Arg280Leu)	OSGEP	Likely pathogenic	criteria provided, single submitter
1684038	NM_017807.4(OSGEP):c.560G>T (p.Gly187Val)	OSGEP	Likely pathogenic	criteria provided, multiple submitters, no conflicts
599157	NM_017807.4(OSGEP):c.892A>T (p.Met298Leu)	OSGEP	Likely pathogenic	criteria provided, single submitter
992324	NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter)	OSGEP	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1431992	NM_017807.4(OSGEP):c.763C>T (p.Gln255Ter)	OSGEP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
449687	NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp)	OSGEP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1033446	NM_017807.4(OSGEP):c.317G>T (p.Gly106Val)	LOC107372315	Uncertain significance	criteria provided, single submitter
1033447	NM_017807.4(OSGEP):c.841G>A (p.Gly281Arg)	OSGEP	Uncertain significance	criteria provided, multiple submitters, no conflicts
1331684	NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr)	OSGEP	Uncertain significance	no assertion criteria provided
2434516	NM_017807.4(OSGEP):c.711_712del (p.Phe238fs)	OSGEP	Uncertain significance	criteria provided, single submitter
2584900	NM_017807.4(OSGEP):c.875G>A (p.Cys292Tyr)	OSGEP	Uncertain significance	criteria provided, single submitter
444888	NM_017807.4(OSGEP):c.530G>C (p.Gly177Ala)	OSGEP	Uncertain significance	criteria provided, multiple submitters, no conflicts
1165354	NM_017807.4(OSGEP):c.294A>G (p.Gln98=)	LOC107372315	Benign	criteria provided, multiple submitters, no conflicts
1229728	NM_017807.4(OSGEP):c.236-32T>C	LOC107372315	Benign	criteria provided, multiple submitters, no conflicts
1164991	NM_017807.4(OSGEP):c.412-17T>A	OSGEP	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · 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
OSGEP	Strong	Autosomal recessive	Galloway-Mowat syndrome 3	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
OSGEP	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
OSGEP	HGNC:18028	ENSG00000092094	Q9NPF4	tRNA N6-adenosine threonylcarbamoyltransferase	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
OSGEP	tRNA N6-adenosine threonylcarbamoyltransferase	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: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Protease	1	36.6×	0.027

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
OSGEP	Protease	yes		Gcp-like_dom, Peptidase_M22_CS, KAE1/TsaD

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
cerebellar cortex	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
OSGEP	254	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
OSGEP	2,733

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
OSGEP	Q9NPF4	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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 modification in the nucleus and cytosol	1	292.8×	0.003	OSGEP

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 modification	1	3370.4×	6e-04	OSGEP
tRNA modification	1	601.9×	0.002	OSGEP

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
OSGEP	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
OSGEP	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	1	OSGEP
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

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)
OSGEP	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.