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
RMND1
(HGNC:21176)
 Strong Moderate Moderate Strong Strong Strong
KCTD11
(HGNC:21302)
 Weak Weak Weak Weak Weak Weak
GTF2H5
(HGNC:21157)
 Moderate Strong Weak Moderate Strong Strong
NUS1
(HGNC:21042)
 Strong Strong Moderate Moderate Moderate Strong
FARS2
(HGNC:21062)
 Strong Moderate Moderate Moderate Strong Strong
ZBTB24
(HGNC:21143)
 Strong Strong Moderate Moderate Strong Strong
QKI
(HGNC:21100)
 Weak Weak Weak Weak Weak Moderate
SERAC1
(HGNC:21061)
 Strong Strong Moderate Strong Strong Strong
HACE1
(HGNC:21033)
 Strong Strong Moderate Strong Strong Strong
CUL7
(HGNC:21024)
 Strong Strong Moderate Strong Strong Strong
ALPK1
(HGNC:20917)
 Strong Moderate Moderate Moderate Strong Strong
AARS1
(HGNC:20)
 Moderate Moderate Moderate Strong Moderate Strong
CPO
(HGNC:21011)
 Moderate Strong Moderate Moderate Strong Strong
CLTC
(HGNC:2092)
 Moderate Moderate Weak Weak Moderate Moderate
SLC39A14
(HGNC:20858)
 Strong Strong Moderate Strong Strong Strong
TUBB
(HGNC:20778)
 Moderate Moderate Moderate Strong Strong Moderate
CLPP
(HGNC:2084)
 Strong Strong Moderate Strong Strong Strong
CLN8
(HGNC:2079)
 Strong Strong Moderate Strong Strong Strong
TUBB4A
(HGNC:20774)
 Moderate Moderate Moderate Strong Strong Strong
TUBB8
(HGNC:20773)
 Strong Strong Moderate Moderate Moderate Strong
Showing 1501–1520 of 2035