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 |
|
MCM8
(HGNC:16147)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DNAJC5
(HGNC:16235)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
SLC52A3
(HGNC:16187)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CADPS2
(HGNC:16018)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
MPLKIP
(HGNC:16002)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
STRC
(HGNC:16035)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
APTX
(HGNC:15984)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
RP1L1
(HGNC:15946)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
SELENON
(HGNC:15999)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TOE1
(HGNC:15954)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
SALL4
(HGNC:15924)
|
Weak
|
Weak
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
MYH7B
(HGNC:15906)
|
Strong
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
ABHD12
(HGNC:15868)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PRPF6
(HGNC:15860)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
RBCK1
(HGNC:15864)
|
Strong
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
HPS4
(HGNC:15844)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CCNC
(HGNC:1581)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Weak
|
|
|
OBSCN
(HGNC:15719)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
CCND3
(HGNC:1585)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
PHIP
(HGNC:15673)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|