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 |
|
MCPH1
(HGNC:6954)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MEIS1
(HGNC:7000)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Weak
|
Moderate
|
|
|
MCM4
(HGNC:6947)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
MCL1
(HGNC:6943)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Strong
|
|
|
MCCC2
(HGNC:6937)
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
CHST6
(HGNC:6938)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
MCCC1
(HGNC:6936)
|
Weak
|
Weak
|
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)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
MATN3
(HGNC:6909)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
|
|
MASP1
(HGNC:6901)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
ABCD4
(HGNC:68)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
MARS1
(HGNC:6898)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
MAN2B1
(HGNC:6826)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MAPRE3
(HGNC:6892)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
MAP3K7
(HGNC:6859)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
MANBA
(HGNC:6831)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
MAN1B1
(HGNC:6823)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MALT1
(HGNC:6819)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|