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
MMP13
(HGNC:7159)
 Moderate Strong Moderate Strong Moderate Strong
TRPM1
(HGNC:7146)
 Moderate Moderate Moderate Moderate Moderate Moderate
MLYCD
(HGNC:7150)
 Strong Strong Moderate Strong Strong Strong
MKS1
(HGNC:7121)
 Strong Strong Moderate Moderate Strong Strong
MIP
(HGNC:7103)
 Strong Strong Strong Weak Strong Strong
MID1
(HGNC:7095)
 Strong Moderate Moderate Moderate Strong Strong
MGP
(HGNC:7060)
 Strong Strong Moderate Moderate Strong Strong
MCM3AP
(HGNC:6946)
 Moderate Moderate Weak Weak Moderate Moderate
MEIS2
(HGNC:7001)
 Strong Strong Moderate Moderate Strong Strong
MCPH1
(HGNC:6954)
 Strong Strong Moderate Strong Strong Moderate
MEIS1
(HGNC:7000)
 Weak Weak Moderate Weak Moderate Moderate
MCM4
(HGNC:6947)
 Weak Moderate Weak Moderate Moderate Moderate
MCL1
(HGNC:6943)
 Weak Weak Weak Weak Weak Weak
MCCC2
(HGNC:6937)
 Moderate Moderate Weak Strong Strong Moderate
CHST6
(HGNC:6938)
 Strong Strong Moderate Strong Strong Strong
MCCC1
(HGNC:6936)
 Moderate Moderate Weak Moderate Strong Strong
MBD4
(HGNC:6919)
 Weak Weak Weak Weak Strong Strong
MAT1A
(HGNC:6903)
 Moderate Moderate Weak Strong Weak Moderate
MATR3
(HGNC:6912)
 Moderate Moderate Weak Strong Moderate Moderate
MATN3
(HGNC:6909)
 Moderate Strong Moderate Strong Moderate Moderate
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