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 |
|
PDE3A
(HGNC:8778)
|
Strong
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PDE11A
(HGNC:8773)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
AIFM1
(HGNC:8768)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
PDCD10
(HGNC:8761)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ATP6AP1
(HGNC:868)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
ATP6V0A4
(HGNC:866)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
PBX1
(HGNC:8632)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PAX1
(HGNC:8615)
|
Weak
|
Weak
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
PARN
(HGNC:8609)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
PAPSS2
(HGNC:8604)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PAK2
(HGNC:8591)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
PAK1
(HGNC:8590)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
ATP6V1E1
(HGNC:857)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
PABPN1
(HGNC:8565)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
ATP6V1B2
(HGNC:854)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
OXCT1
(HGNC:8527)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ATP4A
(HGNC:819)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
|
|
ATP2B3
(HGNC:816)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
SIGMAR1
(HGNC:8157)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
OPHN1
(HGNC:8148)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|