Ullrich congenital muscular dystrophy 1B

Summary

Ullrich congenital muscular dystrophy 1B (MONDO:0958235) is a disease caused by COL6A2 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: COL6A2 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 39

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Ullrich congenital muscular dystrophy 1B
Mondo ID	MONDO:0958235
OMIM	620727
DOID	DOID:0060942
UMLS	C5935582
MedGen	1859300
GARD	0026982
Is cancer (heuristic)	no

Data availability: 39 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › congenital muscular dystrophy › Ullrich congenital muscular dystrophy › Ullrich congenital muscular dystrophy 1B

Related subtypes (3): Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 2, Ullrich congenital muscular dystrophy 1C

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

39 retrieved; paginated sample, class counts are floors:

13 pathogenic, 10 conflicting classifications of pathogenicity, 7 likely pathogenic, 5 pathogenic/likely pathogenic, 4 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1324139	NM_001849.4(COL6A2):c.1521+1G>A	COL6A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1488541	NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)	COL6A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
17156	NM_001849.4(COL6A2):c.1151dup (p.Glu386fs)	COL6A2	Pathogenic	no assertion criteria provided
17158	NM_001849.4(COL6A2):c.1771-1G>A	COL6A2	Pathogenic	no assertion criteria provided
17160	NM_001849.4(COL6A2):c.1488_1513del (p.Arg498fs)	COL6A2	Pathogenic	no assertion criteria provided
17161	NM_001849.4(COL6A2):c.1117-10A>G	COL6A2	Pathogenic	no assertion criteria provided
17162	NM_001849.4(COL6A2):c.801+631_882del	COL6A2	Pathogenic	no assertion criteria provided
17166	NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)	COL6A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
17167	NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)	COL6A2	Pathogenic	criteria provided, multiple submitters, no conflicts
265506	NM_001849.4(COL6A2):c.1970-9G>A	COL6A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
29641	NM_001849.4(COL6A2):c.2626C>A (p.Arg876Ser)	COL6A2	Pathogenic	no assertion criteria provided
36916	NM_001849.4(COL6A2):c.1856_1861del (p.Val619_Ile620del)	COL6A2	Pathogenic	no assertion criteria provided
36917	NM_001849.4(COL6A2):c.1771-1G>T	COL6A2	Pathogenic	no assertion criteria provided
3767988	NM_001849.4(COL6A2):c.310C>T (p.Gln104Ter)	COL6A2	Pathogenic	criteria provided, single submitter
379733	NM_001849.4(COL6A2):c.1572+1G>A	COL6A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4291124	NM_001849.4(COL6A2):c.801G>C (p.Lys267Asn)	COL6A2	Pathogenic	criteria provided, single submitter
476452	NM_001849.4(COL6A2):c.1459-2A>G	COL6A2	Pathogenic	criteria provided, multiple submitters, no conflicts
549682	NM_001849.4(COL6A2):c.1055delG	COL6A2	Pathogenic	criteria provided, single submitter
287030	NM_001849.4(COL6A2):c.866G>A (p.Gly289Asp)	COL6A2	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3767987	NM_001849.4(COL6A2):c.1666dup (p.Glu556fs)	COL6A2	Likely pathogenic	criteria provided, single submitter
3896821	NM_001849.4(COL6A2):c.901-2A>C	COL6A2	Likely pathogenic	criteria provided, single submitter
3896822	NM_001849.4(COL6A2):c.2065G>T (p.Glu689Ter)	COL6A2	Likely pathogenic	criteria provided, single submitter
3899380	NM_001849.4(COL6A2):c.1905G>T (p.Lys635Asn)	COL6A2	Likely pathogenic	criteria provided, single submitter
4279611	NM_001849.4(COL6A2):c.928-2_928-1del	COL6A2	Likely pathogenic	criteria provided, single submitter
4819148	NM_001849.4(COL6A2):c.1388G>T (p.Gly463Val)	COL6A2	Likely pathogenic	criteria provided, single submitter
1582979	NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)	COL6A2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
166934	NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln)	COL6A2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
17168	NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)	COL6A2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
283995	NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del)	COL6A2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
285251	NM_001849.4(COL6A2):c.955-10C>T	COL6A2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 11 · Orphanet: 4 · 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
COL6A2	Definitive	Autosomal dominant	Ullrich congenital muscular dystrophy 1B	11

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
COL6A2	Orphanet:289380	Myosclerosis
COL6A2	Orphanet:610	Bethlem muscular dystrophy
COL6A2	Orphanet:646113	Intermediate collagen VI-related muscular dystrophy
COL6A2	Orphanet:75840	Ullrich congenital muscular dystrophy

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
COL6A2	HGNC:2212	ENSG00000142173	P12110	Collagen alpha-2(VI) chain	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
COL6A2	Collagen alpha-2(VI) chain	Collagen VI acts as a cell-binding protein.

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)
COL6A2	Other/Unknown	no		VWF_A, Collagen, vWFA_dom_sf

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
descending thoracic aorta	1
right coronary artery	1
stromal cell of endometrium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
COL6A2	263	ubiquitous	marker	stromal cell of endometrium, right coronary artery, descending thoracic aorta

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
COL6A2	2,786

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
COL6A2	P12110	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 8. 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
Collagen chain trimerization	1	259.6×	0.007	COL6A2
Signaling by PDGF	1	253.8×	0.007	COL6A2
NCAM1 interactions	1	248.3×	0.007	COL6A2
Assembly of collagen fibrils and other multimeric structures	1	200.3×	0.007	COL6A2
Collagen degradation	1	175.7×	0.007	COL6A2
Collagen biosynthesis and modifying enzymes	1	170.4×	0.007	COL6A2
ECM proteoglycans	1	150.3×	0.007	COL6A2
Integrin cell surface interactions	1	134.3×	0.007	COL6A2

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
response to UV	1	366.4×	0.007	COL6A2
response to glucose	1	255.3×	0.007	COL6A2
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1	210.7×	0.007	COL6A2
neuron apoptotic process	1	185.2×	0.007	COL6A2
cell adhesion	1	37.5×	0.027	COL6A2

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
COL6A2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	COL6A2

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)
COL6A2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.