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 |
|
FARSA
(HGNC:3592)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
BPTF
(HGNC:3581)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
ACSL4
(HGNC:3571)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
PTRHD1
(HGNC:33782)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PATL2
(HGNC:33630)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
ENAM
(HGNC:3344)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
ELF4
(HGNC:3319)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
EHHADH
(HGNC:3247)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
LCA5
(HGNC:31923)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZFHX4
(HGNC:30939)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
TMEM126B
(HGNC:30883)
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
DVL3
(HGNC:3087)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
SNRNP200
(HGNC:30859)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
DVL1
(HGNC:3084)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Moderate
|
|
|
CLPB
(HGNC:30664)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
FDX2
(HGNC:30546)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
DNAAF1
(HGNC:30539)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DNAAF3
(HGNC:30492)
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
SHROOM3
(HGNC:30422)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
IFT172
(HGNC:30391)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|