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 |
|
GUCA1A
(HGNC:4678)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
AMHR2
(HGNC:465)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
GTF2IRD1
(HGNC:4661)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
|
|
GSS
(HGNC:4624)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GSN
(HGNC:4620)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
AMELX
(HGNC:461)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
GRM1
(HGNC:4593)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
GRID2
(HGNC:4576)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
GRIA3
(HGNC:4573)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
GRHPR
(HGNC:4570)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GRIA2
(HGNC:4572)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
AMBN
(HGNC:452)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
AMACR
(HGNC:451)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
ADGRG1
(HGNC:4512)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ALX4
(HGNC:450)
|
Moderate
|
Weak
|
—
|
—
|
—
|
—
|
|
|
GPD1
(HGNC:4455)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GPC4
(HGNC:4452)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
GP9
(HGNC:4444)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GP1BB
(HGNC:4440)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ALS2
(HGNC:443)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|