Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| Gene |
Allelic Consistency |
Phenotypic Consistency |
Penetrance |
Ethnic Diversity |
Inheritance Consistency |
Mechanism of disease |
Actions |
|
TSPEAR
(HGNC:1268)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
VCL
(HGNC:12665)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
USP7
(HGNC:12630)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
USP18
(HGNC:12616)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
UQCRC1
(HGNC:12585)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
UCP3
(HGNC:12519)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Weak
|
Weak
|
|
|
TYROBP
(HGNC:12449)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
TYRO3
(HGNC:12446)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
TULP3
(HGNC:12425)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
TUBG1
(HGNC:12417)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
TUBA4A
(HGNC:12407)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
GFUS
(HGNC:12390)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
TSFM
(HGNC:12367)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
TRRAP
(HGNC:12347)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
TRIP12
(HGNC:12306)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
TRIO
(HGNC:12303)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
TRG
(HGNC:12271)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
GIPC1
(HGNC:1226)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
TRAF6
(HGNC:12036)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
TPR
(HGNC:12017)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|