Genes associated with “MDDGA3”

14 genes foundOpen Targets: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3208 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
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
208
OT Score
0.83

Consider

3 genes
13MDDGA3

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

10TSPAN1
9DAG1
Def

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

Possible

4 genes — click to expand
7BMP4
Def

bone morphogenetic protein 4

6OTX2

orthodenticle homeobox 2

4FKRP
Def

fukutin related protein

3PXDN
Def

peroxidasin

Related phenotype searches

Epileptic encephalopathyDravet syndromeHSPCMT/HMSNSpinocerebellar ataxiaCerebellar ataxiaEpisodic ataxiaMuscular dystrophy

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