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 |
|
ALPK1
(HGNC:20917)
|
Strong
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
AARS1
(HGNC:20)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
CPO
(HGNC:21011)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CLTC
(HGNC:2092)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Weak
|
Strong
|
|
|
SLC39A14
(HGNC:20858)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
TUBB
(HGNC:20778)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
CLPP
(HGNC:2084)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CLN8
(HGNC:2079)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TUBB4A
(HGNC:20774)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
TUBB8
(HGNC:20773)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Weak
|
Strong
|
|
|
CLN5
(HGNC:2076)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
ZFYVE26
(HGNC:20761)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DIS3
(HGNC:20604)
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
Moderate
|
|
|
TPP1
(HGNC:2073)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SCN3B
(HGNC:20665)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DHDDS
(HGNC:20603)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
CYP2U1
(HGNC:20582)
|
Strong
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
COQ6
(HGNC:20233)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
L2HGDH
(HGNC:20499)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TMC8
(HGNC:20474)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Weak
|
Moderate
|
|