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 |
|
CRB2
(HGNC:18688)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ZFP57
(HGNC:18791)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
COG6
(HGNC:18621)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CCDC6
(HGNC:18782)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
ZDHHC9
(HGNC:18475)
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
HSD3B7
(HGNC:18324)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
FKBP14
(HGNC:18625)
|
Strong
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
TUBGCP5
(HGNC:18600)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
LRRK1
(HGNC:18608)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
RNASEH2A
(HGNC:18518)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
OSGEP
(HGNC:18028)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MOCOS
(HGNC:18234)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
HAVCR2
(HGNC:18437)
|
Strong
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
|
|
WIF1
(HGNC:18081)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
MYO18B
(HGNC:18150)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
EMSY
(HGNC:18071)
|
Strong
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
TMC6
(HGNC:18021)
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
|
|
NAGS
(HGNC:17996)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TRPM7
(HGNC:17994)
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
Moderate
|
|
|
B3GALT6
(HGNC:17978)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|