Approved symbol | GJB1 |
---|---|
Approved name | gap junction protein beta 1 |
HGCN ID | HGNC:4283 |
Previous symbols | CMTX1, CMTX |
Inheritance | |
OMIM | 304040 |
Chromosome | Xq13.1 |
Panel(s) |
GJB1 Analysis NGS Intellectual disability NGS Mendelioom NGS Neuropathy/Charcot Marie Tooth NGS Wittestofziekten |