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
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