Genes associated with “UCMD1A”

9 genes found134 ClinVar P/LP variants
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for details

Strong Candidates

1 gene
1
20
score
ClinGen: DefinitiveGTR ↑

Bethlem myopathy 1A

Frequency
-
P/LP Variants
41
OT Score
-

Consider

4 genes
13COL6A2
Def
13COL6A3
Def
13UCMD1A

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A

8COL12A1

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Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.