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 |
|
RTTN
(HGNC:18654)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
GBA2
(HGNC:18986)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SLURP1
(HGNC:18746)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
NAA10
(HGNC:18704)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CREB3L1
(HGNC:18856)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
MMAA
(HGNC:18871)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
POGZ
(HGNC:18801)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RNPC3
(HGNC:18666)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
HPS6
(HGNC:18817)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CDK5RAP2
(HGNC:18672)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CRB2
(HGNC:18688)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZFP57
(HGNC:18791)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
COG6
(HGNC:18621)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CCDC6
(HGNC:18782)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
ZDHHC9
(HGNC:18475)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
HSD3B7
(HGNC:18324)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FKBP14
(HGNC:18625)
|
Strong
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
TUBGCP5
(HGNC:18600)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
|
|
LRRK1
(HGNC:18608)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RNASEH2A
(HGNC:18518)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|