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
Showing 1521–1540 of 2035