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 |
|
UROS
(HGNC:12592)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
UROD
(HGNC:12591)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
UGDH
(HGNC:12525)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
UBTF
(HGNC:12511)
|
Strong
|
Strong
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
UBQLN2
(HGNC:12509)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
ACP5
(HGNC:124)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TNNT3
(HGNC:11950)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
C1QA
(HGNC:1241)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TUBB2A
(HGNC:12412)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
TUFM
(HGNC:12420)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
TUB
(HGNC:12406)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
ACO2
(HGNC:118)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
TRDN
(HGNC:12261)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
TNNI2
(HGNC:11946)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
TRIP11
(HGNC:12305)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
TIMM8A
(HGNC:11817)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ACOX2
(HGNC:120)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
TRAF3
(HGNC:12033)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
TPM2
(HGNC:12011)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
TIA1
(HGNC:11802)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|