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 |
|
TMEM106B
(HGNC:22407)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
|
|
COL10A1
(HGNC:2185)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
COCH
(HGNC:2180)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
COL9A2
(HGNC:2218)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
COL4A6
(HGNC:2208)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
COL9A1
(HGNC:2217)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
KCTD7
(HGNC:21957)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ANTXR2
(HGNC:21732)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CNTN6
(HGNC:2176)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
LHX4
(HGNC:21734)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
IRF2BP2
(HGNC:21729)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
BRAT1
(HGNC:21701)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
RNF216
(HGNC:21698)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ZNF462
(HGNC:21684)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
OSTM1
(HGNC:21652)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
SATB2
(HGNC:21637)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CHCHD2
(HGNC:21645)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
NHLRC1
(HGNC:21576)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RFX6
(HGNC:21478)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
MCM9
(HGNC:21484)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|