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 |
|
MICU1
(HGNC:1530)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
GPR101
(HGNC:14963)
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
Moderate
|
|
|
CASP10
(HGNC:1500)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
POFUT1
(HGNC:14988)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
Strong
|
|
|
CASK
(HGNC:1497)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SNX14
(HGNC:14977)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GTPBP3
(HGNC:14880)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
NIN
(HGNC:14906)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
SNX10
(HGNC:14974)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PIGT
(HGNC:14938)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DNAJB6
(HGNC:14888)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
COG5
(HGNC:14857)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CAPN5
(HGNC:1482)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
CAPN1
(HGNC:1476)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
DEAF1
(HGNC:14677)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
ADAMTSL2
(HGNC:14631)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|
|
PAPPA2
(HGNC:14615)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
ACTG2
(HGNC:145)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
CAMK2B
(HGNC:1461)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
WNK4
(HGNC:14544)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
|