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 |
|
PANX1
(HGNC:8599)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
ATP6V0C
(HGNC:855)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
BLOC1S6
(HGNC:8549)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
P4HB
(HGNC:8548)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
ATP6V1A
(HGNC:851)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Moderate
|
Strong
|
|
|
OTOG
(HGNC:8516)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
OSMR
(HGNC:8507)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
ACACA
(HGNC:84)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
ATP5F1A
(HGNC:823)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
ATP2B4
(HGNC:817)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
OGT
(HGNC:8127)
|
Strong
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
ODC1
(HGNC:8109)
|
Strong
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
OAS1
(HGNC:8086)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
NXF5
(HGNC:8075)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
NRP1
(HGNC:8004)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
NPPA
(HGNC:7939)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
PNP
(HGNC:7892)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CNOT3
(HGNC:7879)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NODAL
(HGNC:7865)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
NID1
(HGNC:7821)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|