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 |
|
SLC34A3
(HGNC:20305)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SCARF2
(HGNC:19869)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NUBPL
(HGNC:20278)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
B3GLCT
(HGNC:20207)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CACNA2D4
(HGNC:20202)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
POLR1C
(HGNC:20194)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
FLVCR2
(HGNC:20105)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
SLC35C1
(HGNC:20197)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
HFM1
(HGNC:20193)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
KIAA0586
(HGNC:19960)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
MYORG
(HGNC:19918)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TTC8
(HGNC:20087)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZNF408
(HGNC:20041)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
POMT2
(HGNC:19743)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TTC7A
(HGNC:19750)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ISCA2
(HGNC:19857)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ADAMTSL4
(HGNC:19706)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CANT1
(HGNC:19721)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CHST3
(HGNC:1971)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
KCNV2
(HGNC:19698)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|