Proband Tables

Summaries focusing on proband-level evidence; browse by gene.

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Gene Allelic Consistency Phenotypic Consistency Penetrance Ethnic Diversity Inheritance Consistency Mechanism of disease Actions
GUSB
(HGNC:4696)
 Moderate Strong Moderate Strong Strong Strong
GTF2I
(HGNC:4659)
 Moderate Moderate Weak Moderate Moderate Moderate
GSK3B
(HGNC:4617)
 Moderate Moderate Weak Weak Moderate Moderate
GRM6
(HGNC:4598)
 Moderate Strong Moderate Moderate Strong Moderate
GRIN2D
(HGNC:4588)
 Moderate Strong Moderate Weak Strong Moderate
GRIK2
(HGNC:4580)
 Weak Weak Weak Weak Moderate Moderate
GRB10
(HGNC:4564)
 Moderate Moderate Weak Moderate Moderate Moderate
ADGRG2
(HGNC:4516)
 Moderate Moderate Moderate Strong Strong Moderate
GABBR2
(HGNC:4507)
 Moderate Moderate Weak Weak Moderate Moderate
GPC6
(HGNC:4454)
 Strong Strong Moderate Moderate Strong Strong
GNPDA1
(HGNC:4417)
 Strong Strong Moderate Strong Strong Strong
GNPAT
(HGNC:4416)
 Moderate Strong Moderate Moderate Strong Strong
GNB1
(HGNC:4396)
 Moderate Moderate Moderate Moderate Strong Moderate
GNAT2
(HGNC:4394)
 Strong Strong Moderate Moderate Strong Strong
GNAI3
(HGNC:4387)
 Strong Strong Moderate Moderate Strong Strong
GNAI1
(HGNC:4384)
 Moderate Strong Weak Weak Moderate Moderate
GLUL
(HGNC:4341)
 Strong Strong Moderate Weak Moderate Strong
BICRA
(HGNC:4332)
 Strong Moderate Weak Weak Strong Strong
GLS
(HGNC:4331)
 Moderate Moderate Moderate Weak Moderate Moderate
GLRA1
(HGNC:4326)
 Strong Strong Moderate Strong Moderate Strong
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