Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
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| Gene |
Allelic Consistency |
Phenotypic Consistency |
Penetrance |
Ethnic Diversity |
Inheritance Consistency |
Mechanism of disease |
Actions |
|
PHKA1
(HGNC:8925)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
PHYH
(HGNC:8940)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
PHGDH
(HGNC:8923)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ACADL
(HGNC:88)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
PHKA2
(HGNC:8926)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PGAM2
(HGNC:8889)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
PGM1
(HGNC:8905)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PGM3
(HGNC:8907)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
PFN1
(HGNC:8881)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
PGK1
(HGNC:8896)
|
Weak
|
Weak
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
PFKM
(HGNC:8877)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PEX16
(HGNC:8857)
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
Strong
|
|
|
CFP
(HGNC:8864)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PEX7
(HGNC:8860)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PEPD
(HGNC:8840)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PEX12
(HGNC:8854)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ACAD8
(HGNC:87)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
PDE6C
(HGNC:8787)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PDHB
(HGNC:8808)
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
PDE6A
(HGNC:8785)
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|