Oocyte maturation defect 7

Summary

Oocyte maturation defect 7 (MONDO:0032810) is a disease caused by PANX1 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: PANX1 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 12

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte maturation defect 7
Mondo ID	MONDO:0032810
OMIM	618550
UMLS	C5231407
MedGen	1684736
Is cancer (heuristic)	no

Also known as: OOMD7

Data availability: 12 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inherited oocyte maturation defect › oocyte maturation defect 7

Related subtypes (23): female infertility due to zona pellucida defect, oocyte maturation defect 5, oocyte maturation defect 2, oocyte maturation defect 3, oocyte maturation defect 4, oocyte maturation defect 11, oocyte maturation defect 12, oocyte maturation defect 10, oocyte maturation defect 6, oocyte maturation defect 8, oocyte maturation defect 9, oocyte maturation defect 13, oocyte maturation defect 14, oocyte/zygote/embryo maturation arrest 17, oocyte/zygote/embryo maturation arrest 18, oocyte/zygote/embryo maturation arrest 19, oocyte/zygote/embryo maturation arrest 20, oocyte/zygote/embryo maturation arrest 21, oocyte/zygote/embryo maturation arrest 22, oocyte/zygote/embryo maturation arrest 23, oocyte/zygote/embryo maturation arrest 24, oocyte/zygote/embryo maturation arrest 25, oocyte/zygote/embryo maturation arrest 16

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

12 retrieved; paginated sample, class counts are floors:

5 uncertain significance, 4 pathogenic, 2 conflicting classifications of pathogenicity, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
689424	NM_015368.4(PANX1):c.62_70del (p.Thr21_Pro23del)	LOC130006599	Pathogenic	no assertion criteria provided
689421	NM_015368.4(PANX1):c.1174C>T (p.Gln392Ter)	PANX1	Pathogenic	no assertion criteria provided
689422	NM_015368.4(PANX1):c.1040G>C (p.Cys347Ser)	PANX1	Pathogenic	no assertion criteria provided
689423	NM_015368.4(PANX1):c.1036A>G (p.Lys346Glu)	PANX1	Pathogenic	no assertion criteria provided
3304195	NM_015368.4(PANX1):c.346T>G (p.Phe116Val)	PANX1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
726979	NM_015368.4(PANX1):c.1133T>C (p.Val378Ala)	PANX1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2582703	NM_015368.4(PANX1):c.749C>T (p.Ser250Leu)	PANX1	Uncertain significance	no assertion criteria provided
3382423	NM_015368.4(PANX1):c.1281A>T (p.Ter427Cys)	PANX1	Uncertain significance	criteria provided, single submitter
3891904	NM_015368.4(PANX1):c.1234A>G (p.Asn412Asp)	PANX1	Uncertain significance	criteria provided, single submitter
3891905	NM_015368.4(PANX1):c.812G>T (p.Gly271Val)	PANX1	Uncertain significance	criteria provided, single submitter
4813426	NM_015368.4(PANX1):c.562G>C (p.Glu188Gln)	PANX1	Uncertain significance	criteria provided, single submitter
1254433	NM_015368.4(PANX1):c.15A>C (p.Gln5His)	LOC130006599	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
PANX1	Strong	Autosomal dominant	oocyte maturation defect 7	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PANX1	Orphanet:488191	Female infertility due to oocyte meiotic arrest

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
PANX1	HGNC:8599	ENSG00000110218	Q96RD7	Pannexin-1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PANX1	Pannexin-1	Ion channel involved in a variety of physiological functions such as blood pressure regulation, apoptotic cell clearance and oogenesis.

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)
PANX1	Other/Unknown	no		Innexin, Pannexin

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
cortical plate	1
ganglionic eminence	1
stromal cell of endometrium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PANX1	222	ubiquitous	marker	cortical plate, ganglionic eminence, stromal cell of endometrium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PANX1	1,478

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PANX1	Q96RD7	33

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. 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
Electric Transmission Across Gap Junctions	1	1903.3×	0.002	PANX1
The NLRP3 inflammasome	1	671.8×	0.002	PANX1
Mechanical load activates signaling by PIEZO1 and integrins in osteocytes	1	671.8×	0.002	PANX1
High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells	1	160.8×	0.006	PANX1

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
monoatomic anion transmembrane transport	1	2808.7×	0.002	PANX1
positive regulation of interleukin-1 alpha production	1	2407.4×	0.002	PANX1
ATP transport	1	1404.3×	0.003	PANX1
response to ATP	1	991.3×	0.003	PANX1
monoatomic cation transport	1	766.0×	0.003	PANX1
positive regulation of macrophage cytokine production	1	732.7×	0.003	PANX1
oogenesis	1	383.0×	0.004	PANX1
positive regulation of interleukin-1 beta production	1	259.3×	0.005	PANX1
response to ischemia	1	251.5×	0.005	PANX1
calcium ion transport	1	181.2×	0.006	PANX1
cell-cell signaling	1	69.6×	0.014	PANX1

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
PANX1	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
PANX1	6	Binding:6

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	PANX1

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)
PANX1	6	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.