Table 1 Top 20 genes with the highest proportion of DNMs
From: Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
Gene Symbol | Relative mutability (DNM frequency/coding length)*100 | Most frequent clinical phenotype (HGMD) |
|---|---|---|
H3-3Â A | 7.056 | Neurodegenerative disease |
DDX3X | 6.747 | DDX3X syndrome |
CSNK2B | 6.636 | Poirier-Bienvenu neurodevelopmental syndrome |
PURA | 6.295 | PURA syndrome |
ZC4H2 | 5.926 | Arthrogryposis multiplex congenita |
STXBP1 | 5.243 | Epileptic encephalopathy, early infantile |
SCN1A | 5.158 | Dravet syndrome |
SATB2 | 4.723 | SATB2-associated syndrome |
H3-3B | 4.623 | Neurodegenerative disease |
TUBA1A | 4.425 | Tubulinopathy |
SLC35A2 | 4.146 | Congenital disorder of glycosylation |
CTNNB1 | 4.007 | Neurodevelopmental disorder |
VAMP2 | 3.989 | Axial hypotonia, intellectual disability and autism |
GNAO1 | 3.944 | Encephalopathy |
MECP2 | 3.901 | Rett syndrome |
DYRK1A | 3.665 | Intellectual disability/Developmental disorder |
GATAD2B | 3.591 | Neurodevelopmental disorder |
WDR45 | 3.591 | Neurodegeneration with brain iron accumulation |
SLC6A1 | 3.556 | Neurodevelopmental disorder |
H1-4 | 3.333 | Developmental disorder/Intellectual disability and distinct facial gestalt |