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 |
|
GOSR2
(HGNC:4431)
|
Strong
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
GNS
(HGNC:4422)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GNMT
(HGNC:4415)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
GNRH1
(HGNC:4419)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
GNB5
(HGNC:4401)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
GNAT1
(HGNC:4393)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
GNAL
(HGNC:4388)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GM2A
(HGNC:4367)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GNA13
(HGNC:4381)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
GLI1
(HGNC:4317)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
GLRB
(HGNC:4329)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
GLE1
(HGNC:4315)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
ALOX12B
(HGNC:430)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
|
|
GCLC
(HGNC:4311)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
GK
(HGNC:4289)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GJB4
(HGNC:4286)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
GJA3
(HGNC:4277)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
GHRHR
(HGNC:4266)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GGCX
(HGNC:4247)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GDF6
(HGNC:4221)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|