Genes associated with “MDDGA3”

Diagnostic yield calculator →
56 genes foundOpen Targets: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
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
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Strong Candidates

1 gene
1
POMGNT1 →

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

29
score
ClinGen: DefinitiveGTR ↑

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3

Frequency
-
P/LP Variants
220
OT Score
0.83

Consider

6 genes
13MDDGA3

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3

10TSPAN1
10PITX2
Def

paired like homeodomain 2

10GLI3
Def

GLI family zinc finger 3

10MITF
Def

melanocyte inducing transcription factor

9DAG1
Def

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9

Possible

25 genes — click to expand
8PAX6
Def

paired box 6

8COL4A1
Def

collagen type IV alpha 1 chain

8FOXC1
Def

forkhead box C1

8BMP4
Def

bone morphogenetic protein 4

7OTX2

orthodenticle homeobox 2

6LMX1B
Def

LIM homeobox transcription factor 1 beta

6PAX2
Def

paired box 2

4FOXE3
Def

forkhead box E3

4CSTB
Def

cystatin B

4FKRP
Def

fukutin related protein

4PDE6B
Def

phosphodiesterase 6B

4AGTPBP1
Def

ATP/GTP binding carboxypeptidase 1

4RHO
Def

rhodopsin

4CLCN7
Def

Cl-/H+ antiporter 7

4PRSS56
Def

serine protease 56

4ALX1
Def

ALX homeobox 1

4RPGR
Def

retinitis pigmentosa GTPase regulator

4EML1
Def

EMAP like 1

4SH3PXD2B
Def

SH3 and PX domains 2B

4EGFR
Def

epidermal growth factor receptor

4FGFR2
Def

fibroblast growth factor receptor 2

4LYST
Def

lysosomal trafficking regulator

4NMNAT1
Def

nicotinamide nucleotide adenylyltransferase 1

4RB1
DefSF

RB transcriptional corepressor 1

4RELN
Def

reelin

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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.