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 |
|
MYORG
(HGNC:19918)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TTC8
(HGNC:20087)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
ZNF408
(HGNC:20041)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
POMT2
(HGNC:19743)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TTC7A
(HGNC:19750)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ISCA2
(HGNC:19857)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ADAMTSL4
(HGNC:19706)
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
CANT1
(HGNC:19721)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CHST3
(HGNC:1971)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
KCNV2
(HGNC:19698)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DDHD1
(HGNC:19714)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CNKSR2
(HGNC:19701)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
COQ4
(HGNC:19693)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
EIF2AK4
(HGNC:19687)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NECTIN4
(HGNC:19688)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CHRNG
(HGNC:1967)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
|
|
CHRNE
(HGNC:1966)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
TNNI3K
(HGNC:19661)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CHRND
(HGNC:1965)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|
|
CHRNA2
(HGNC:1956)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|