Symbol
| DMRTA2
| contributors: mct - updated : 13-02-2018
|
HGNC name
| DMRT-like family A2
|
HGNC id
| 13908
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
|  
|  
| loss of function
|
leads to a novel disorder of cortical development with fronto-parietal pachygyria, agenesis of the corpus callosum and progressive severe microcephaly | |
Susceptibility
|
to Atrial fibrillation (AF) |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| Dmrta2 null mutants demonstrated a dramatic reduction in medial cortical structures such as the cortical hem and the choroid plexus, and a complete loss of the hippocampus |