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 |
|
CLN5
(HGNC:2076)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
ZFYVE26
(HGNC:20761)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DIS3
(HGNC:20604)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
TPP1
(HGNC:2073)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SCN3B
(HGNC:20665)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
DHDDS
(HGNC:20603)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
CYP2U1
(HGNC:20582)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
COQ6
(HGNC:20233)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
L2HGDH
(HGNC:20499)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TMC8
(HGNC:20474)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
CLCN2
(HGNC:2020)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
TRAF7
(HGNC:20456)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
PADI6
(HGNC:20449)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
SPATA7
(HGNC:20423)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
MBD5
(HGNC:20444)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CLDN19
(HGNC:2040)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
POLR1D
(HGNC:20422)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
SUMF1
(HGNC:20376)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CLDN14
(HGNC:2035)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
SMOC1
(HGNC:20318)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|