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
|
|