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GENATLAS PHENOTYPE |
last update : 02-01-2012 |
Symbol | OGS1 |
Location | Xp22.2 |
Name | Opitz-G/BBB syndrome 1 |
Other name(s) |
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Corresponding gene | MID1 |
Other symbol(s) | OS, OSX, BBDG1, MID1 |
Main clinical features |
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Genetic determination | sex linked |
Function/system disorder | multisystem/generalized |
Type | malformation |
Gene product |
Name | midin (MID1) displaying an impaired association with the cytoskeletal structures, loss of function mutations |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
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| abnormal protein/loss of function
| scattered along the entire length of the gene and are represented by missense and nonsense mutations, insertions and deletions causing frame shift mutations, and deletion of either single exons or the entire gene
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Remark(s) |
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