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 |
|
ASL
(HGNC:746)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MTMR2
(HGNC:7450)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MSX2
(HGNC:7392)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
MSN
(HGNC:7373)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Strong
|
|
|
MRC1
(HGNC:7228)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
SEPTIN9
(HGNC:7323)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Weak
|
|
|
MPI
(HGNC:7216)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
MPP3
(HGNC:7221)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
ARSL
(HGNC:719)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
MOCS2
(HGNC:7193)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MOCS1
(HGNC:7190)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MMP13
(HGNC:7159)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
TRPM1
(HGNC:7146)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
MLYCD
(HGNC:7150)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
MKS1
(HGNC:7121)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MIP
(HGNC:7103)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
MID1
(HGNC:7095)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
MGP
(HGNC:7060)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MCM3AP
(HGNC:6946)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
MEIS2
(HGNC:7001)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|