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 |
|
FBXO11
(HGNC:13590)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
IFT122
(HGNC:13556)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
ATP8A2
(HGNC:13533)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
C7
(HGNC:1346)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MCOLN1
(HGNC:13356)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC2A10
(HGNC:13444)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ARL6
(HGNC:13210)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
ROBO3
(HGNC:13433)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ACTB
(HGNC:132)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
NSDHL
(HGNC:13398)
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PRUNE1
(HGNC:13420)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PCLO
(HGNC:13406)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
LPIN1
(HGNC:13345)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
AICDA
(HGNC:13203)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
ADAMTS10
(HGNC:13201)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CNBP
(HGNC:13164)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZP1
(HGNC:13187)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SCAPER
(HGNC:13081)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ZBTB18
(HGNC:13030)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
ZMYM2
(HGNC:12989)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|